Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53248773T>ACA413158028IQSEC2c.2566A>T (p.Ile856Leu)
c.359A>T
c.2407A>T (p.Ile803Leu)
c.2377A>T (p.Ile793Leu)
c.1792A>T (p.Ile598Leu)
c.2503A>T (p.Ile835Leu)
c.1729A>T (p.Ile577Leu)
c.1696A>T (p.Ile566Leu)
n.2730A>T
c.1909A>T (p.Ile637Leu)
n.2724A>T
Xg.53248773T>CCA16621444IQSEC2c.2566A>G (p.Ile856Val)
c.359A>G
c.2407A>G (p.Ile803Val)
c.2377A>G (p.Ile793Val)
c.1792A>G (p.Ile598Val)
c.2503A>G (p.Ile835Val)
c.1729A>G (p.Ile577Val)
c.1696A>G (p.Ile566Val)
n.2730A>G
c.1909A>G (p.Ile637Val)
n.2724A>G
 ClinVar dbSNP
Xg.53248773T>GCA413158032IQSEC2c.2566A>C (p.Ile856Leu)
c.359A>C
c.2407A>C (p.Ile803Leu)
c.2377A>C (p.Ile793Leu)
c.1792A>C (p.Ile598Leu)
c.2503A>C (p.Ile835Leu)
c.1729A>C (p.Ile577Leu)
c.1696A>C (p.Ile566Leu)
n.2730A>C
c.1909A>C (p.Ile637Leu)
n.2724A>C
Xg.53248773T=CA2429775073IQSEC2c.2566A= (p.Ile856=)
c.359A=
c.2407A= (p.Ile803=)
c.2377A= (p.Ile793=)
c.1792A= (p.Ile598=)
c.2503A= (p.Ile835=)
c.1729A= (p.Ile577=)
c.1696A= (p.Ile566=)
n.2730A=
c.1909A= (p.Ile637=)
n.2724A=
Xg.53248774C>ACA413158035IQSEC2c.2565G>T (p.Met855Ile)
c.358G>T
c.2406G>T (p.Met802Ile)
c.2376G>T (p.Met792Ile)
c.1791G>T (p.Met597Ile)
c.2502G>T (p.Met834Ile)
c.1728G>T (p.Met576Ile)
c.1695G>T (p.Met565Ile)
n.2729G>T
c.1908G>T (p.Met636Ile)
n.2723G>T
Xg.53248774C>GCA413158037IQSEC2c.2565G>C (p.Met855Ile)
c.358G>C
c.2406G>C (p.Met802Ile)
c.2376G>C (p.Met792Ile)
c.1791G>C (p.Met597Ile)
c.2502G>C (p.Met834Ile)
c.1728G>C (p.Met576Ile)
c.1695G>C (p.Met565Ile)
n.2729G>C
c.1908G>C (p.Met636Ile)
n.2723G>C
Xg.53248774C>TCA413158040IQSEC2c.2565G>A (p.Met855Ile)
c.358G>A
c.2406G>A (p.Met802Ile)
c.2376G>A (p.Met792Ile)
c.1791G>A (p.Met597Ile)
c.2502G>A (p.Met834Ile)
c.1728G>A (p.Met576Ile)
c.1695G>A (p.Met565Ile)
n.2729G>A
c.1908G>A (p.Met636Ile)
n.2723G>A
Xg.53248775A>CCA413158044IQSEC2c.2564T>G (p.Met855Arg)
c.357T>G
c.2405T>G (p.Met802Arg)
c.2375T>G (p.Met792Arg)
c.1790T>G (p.Met597Arg)
c.2501T>G (p.Met834Arg)
c.1727T>G (p.Met576Arg)
c.1694T>G (p.Met565Arg)
n.2728T>G
c.1907T>G (p.Met636Arg)
n.2722T>G
Xg.53248775A>GCA413158049IQSEC2c.2564T>C (p.Met855Thr)
c.357T>C
c.2405T>C (p.Met802Thr)
c.2375T>C (p.Met792Thr)
c.1790T>C (p.Met597Thr)
c.2501T>C (p.Met834Thr)
c.1727T>C (p.Met576Thr)
c.1694T>C (p.Met565Thr)
n.2728T>C
c.1907T>C (p.Met636Thr)
n.2722T>C
Xg.53248775A>TCA413158047IQSEC2c.2564T>A (p.Met855Lys)
c.357T>A
c.2405T>A (p.Met802Lys)
c.2375T>A (p.Met792Lys)
c.1790T>A (p.Met597Lys)
c.2501T>A (p.Met834Lys)
c.1727T>A (p.Met576Lys)
c.1694T>A (p.Met565Lys)
n.2728T>A
c.1907T>A (p.Met636Lys)
n.2722T>A
Xg.53248776T>ACA413158055IQSEC2c.2563A>T (p.Met855Leu)
c.356A>T
c.2404A>T (p.Met802Leu)
c.2374A>T (p.Met792Leu)
c.1789A>T (p.Met597Leu)
c.2500A>T (p.Met834Leu)
c.1726A>T (p.Met576Leu)
c.1693A>T (p.Met565Leu)
n.2727A>T
c.1906A>T (p.Met636Leu)
n.2721A>T
Xg.53248776T>CCA413158058IQSEC2c.2563A>G (p.Met855Val)
c.356A>G
c.2404A>G (p.Met802Val)
c.2374A>G (p.Met792Val)
c.1789A>G (p.Met597Val)
c.2500A>G (p.Met834Val)
c.1726A>G (p.Met576Val)
c.1693A>G (p.Met565Val)
n.2727A>G
c.1906A>G (p.Met636Val)
n.2721A>G
 ClinVar
Xg.53248776T>GCA413158061IQSEC2c.2563A>C (p.Met855Leu)
c.356A>C
c.2404A>C (p.Met802Leu)
c.2374A>C (p.Met792Leu)
c.1789A>C (p.Met597Leu)
c.2500A>C (p.Met834Leu)
c.1726A>C (p.Met576Leu)
c.1693A>C (p.Met565Leu)
n.2727A>C
c.1906A>C (p.Met636Leu)
n.2721A>C
Xg.53248777C>ACA413158065IQSEC2c.2562G>T (p.Gln854His)
c.355G>T
c.2403G>T (p.Gln801His)
c.2373G>T (p.Gln791His)
c.1788G>T (p.Gln596His)
c.2499G>T (p.Gln833His)
c.1725G>T (p.Gln575His)
c.1692G>T (p.Gln564His)
n.2726G>T
c.1905G>T (p.Gln635His)
n.2720G>T
Xg.53248777C>GCA413158069IQSEC2c.2562G>C (p.Gln854His)
c.355G>C
c.2403G>C (p.Gln801His)
c.2373G>C (p.Gln791His)
c.1788G>C (p.Gln596His)
c.2499G>C (p.Gln833His)
c.1725G>C (p.Gln575His)
c.1692G>C (p.Gln564His)
n.2726G>C
c.1905G>C (p.Gln635His)
n.2720G>C
Xg.53248777C>TCA516428746IQSEC2c.2562G>A (p.Gln854=)
c.355G>A
c.2403G>A (p.Gln801=)
c.2373G>A (p.Gln791=)
c.1788G>A (p.Gln596=)
c.2499G>A (p.Gln833=)
c.1725G>A (p.Gln575=)
c.1692G>A (p.Gln564=)
n.2726G>A
c.1905G>A (p.Gln635=)
n.2720G>A
Xg.53248778T>ACA413158074IQSEC2c.2561A>T (p.Gln854Leu)
c.354A>T
c.2402A>T (p.Gln801Leu)
c.2372A>T (p.Gln791Leu)
c.1787A>T (p.Gln596Leu)
c.2498A>T (p.Gln833Leu)
c.1724A>T (p.Gln575Leu)
c.1691A>T (p.Gln564Leu)
n.2725A>T
c.1904A>T (p.Gln635Leu)
n.2719A>T
Xg.53248778T>CCA413158076IQSEC2c.2561A>G (p.Gln854Arg)
c.354A>G
c.2402A>G (p.Gln801Arg)
c.2372A>G (p.Gln791Arg)
c.1787A>G (p.Gln596Arg)
c.2498A>G (p.Gln833Arg)
c.1724A>G (p.Gln575Arg)
c.1691A>G (p.Gln564Arg)
n.2725A>G
c.1904A>G (p.Gln635Arg)
n.2719A>G
Xg.53248778T>GCA121201IQSEC2c.2561A>C (p.Gln854Pro)
c.354A>C
c.2402A>C (p.Gln801Pro)
c.2372A>C (p.Gln791Pro)
c.1787A>C (p.Gln596Pro)
c.2498A>C (p.Gln833Pro)
c.1724A>C (p.Gln575Pro)
c.1691A>C (p.Gln564Pro)
n.2725A>C
c.1904A>C (p.Gln635Pro)
n.2719A>C
 ClinVar dbSNP
Xg.53248778T=CA2429775074IQSEC2c.2561A= (p.Gln854=)
c.354A=
c.2402A= (p.Gln801=)
c.2372A= (p.Gln791=)
c.1787A= (p.Gln596=)
c.2498A= (p.Gln833=)
c.1724A= (p.Gln575=)
c.1691A= (p.Gln564=)
n.2725A=
c.1904A= (p.Gln635=)
n.2719A=
Xg.53248779G>ACA413158083IQSEC2c.2560C>T (p.Gln854Ter)
c.353C>T
c.2401C>T (p.Gln801Ter)
c.2371C>T (p.Gln791Ter)
c.1786C>T (p.Gln596Ter)
c.2497C>T (p.Gln833Ter)
c.1723C>T (p.Gln575Ter)
c.1690C>T (p.Gln564Ter)
n.2724C>T
c.1903C>T (p.Gln635Ter)
n.2718C>T
Xg.53248779G>CCA413158086IQSEC2c.2560C>G (p.Gln854Glu)
c.353C>G
c.2401C>G (p.Gln801Glu)
c.2371C>G (p.Gln791Glu)
c.1786C>G (p.Gln596Glu)
c.2497C>G (p.Gln833Glu)
c.1723C>G (p.Gln575Glu)
c.1690C>G (p.Gln564Glu)
n.2724C>G
c.1903C>G (p.Gln635Glu)
n.2718C>G
Xg.53248779G>TCA413158088IQSEC2c.2560C>A (p.Gln854Lys)
c.353C>A
c.2401C>A (p.Gln801Lys)
c.2371C>A (p.Gln791Lys)
c.1786C>A (p.Gln596Lys)
c.2497C>A (p.Gln833Lys)
c.1723C>A (p.Gln575Lys)
c.1690C>A (p.Gln564Lys)
n.2724C>A
c.1903C>A (p.Gln635Lys)
n.2718C>A
Xg.53248780C>ACA516428752IQSEC2c.2559G>T (p.Arg853=)
c.352G>T
c.2400G>T (p.Arg800=)
c.2370G>T (p.Arg790=)
c.1785G>T (p.Arg595=)
c.2496G>T (p.Arg832=)
c.1722G>T (p.Arg574=)
c.1689G>T (p.Arg563=)
n.2723G>T
c.1902G>T (p.Arg634=)
n.2717G>T
Xg.53248780C=CA2429775075IQSEC2c.2559G= (p.Arg853=)
c.352G=
c.2400G= (p.Arg800=)
c.2370G= (p.Arg790=)
c.1785G= (p.Arg595=)
c.2496G= (p.Arg832=)
c.1722G= (p.Arg574=)
c.1689G= (p.Arg563=)
n.2723G=
c.1902G= (p.Arg634=)
n.2717G=
Xg.53248780C>GCA516428754IQSEC2c.2559G>C (p.Arg853=)
c.352G>C
c.2400G>C (p.Arg800=)
c.2370G>C (p.Arg790=)
c.1785G>C (p.Arg595=)
c.2496G>C (p.Arg832=)
c.1722G>C (p.Arg574=)
c.1689G>C (p.Arg563=)
n.2723G>C
c.1902G>C (p.Arg634=)
n.2717G>C
Xg.53248780C>TCA516428753IQSEC2c.2559G>A (p.Arg853=)
c.352G>A
c.2400G>A (p.Arg800=)
c.2370G>A (p.Arg790=)
c.1785G>A (p.Arg595=)
c.2496G>A (p.Arg832=)
c.1722G>A (p.Arg574=)
c.1689G>A (p.Arg563=)
n.2723G>A
c.1902G>A (p.Arg634=)
n.2717G>A
 dbSNP
Xg.53248781C>ACA413158096IQSEC2c.2558G>T (p.Arg853Leu)
c.351G>T
c.2399G>T (p.Arg800Leu)
c.2369G>T (p.Arg790Leu)
c.1784G>T (p.Arg595Leu)
c.2495G>T (p.Arg832Leu)
c.1721G>T (p.Arg574Leu)
c.1688G>T (p.Arg563Leu)
n.2722G>T
c.1901G>T (p.Arg634Leu)
n.2716G>T
Xg.53248781C=CA2429775076IQSEC2c.2558G= (p.Arg853=)
c.351G=
c.2399G= (p.Arg800=)
c.2369G= (p.Arg790=)
c.1784G= (p.Arg595=)
c.2495G= (p.Arg832=)
c.1721G= (p.Arg574=)
c.1688G= (p.Arg563=)
n.2722G=
c.1901G= (p.Arg634=)
n.2716G=
Xg.53248781C>GCA413158094IQSEC2c.2558G>C (p.Arg853Pro)
c.351G>C
c.2399G>C (p.Arg800Pro)
c.2369G>C (p.Arg790Pro)
c.1784G>C (p.Arg595Pro)
c.2495G>C (p.Arg832Pro)
c.1721G>C (p.Arg574Pro)
c.1688G>C (p.Arg563Pro)
n.2722G>C
c.1901G>C (p.Arg634Pro)
n.2716G>C
Xg.53248781C>TCA10419942IQSEC2c.2558G>A (p.Arg853Gln)
c.351G>A
c.2399G>A (p.Arg800Gln)
c.2369G>A (p.Arg790Gln)
c.1784G>A (p.Arg595Gln)
c.2495G>A (p.Arg832Gln)
c.1721G>A (p.Arg574Gln)
c.1688G>A (p.Arg563Gln)
n.2722G>A
c.1901G>A (p.Arg634Gln)
n.2716G>A
 dbSNP ExAC gnomAD v2
Xg.53248782G>ACA413158099IQSEC2c.2557C>T (p.Arg853Trp)
c.350C>T
c.2398C>T (p.Arg800Trp)
c.2368C>T (p.Arg790Trp)
c.1783C>T (p.Arg595Trp)
c.2494C>T (p.Arg832Trp)
c.1720C>T (p.Arg574Trp)
c.1687C>T (p.Arg563Trp)
n.2721C>T
c.1900C>T (p.Arg634Trp)
n.2715C>T
Xg.53248782G>CCA413158103IQSEC2c.2557C>G (p.Arg853Gly)
c.350C>G
c.2398C>G (p.Arg800Gly)
c.2368C>G (p.Arg790Gly)
c.1783C>G (p.Arg595Gly)
c.2494C>G (p.Arg832Gly)
c.1720C>G (p.Arg574Gly)
c.1687C>G (p.Arg563Gly)
n.2721C>G
c.1900C>G (p.Arg634Gly)
n.2715C>G
Xg.53248782G>TCA516428761IQSEC2c.2557C>A (p.Arg853=)
c.350C>A
c.2398C>A (p.Arg800=)
c.2368C>A (p.Arg790=)
c.1783C>A (p.Arg595=)
c.2494C>A (p.Arg832=)
c.1720C>A (p.Arg574=)
c.1687C>A (p.Arg563=)
n.2721C>A
c.1900C>A (p.Arg634=)
n.2715C>A
Xg.53248783G>ACA516428762IQSEC2c.2556C>T (p.Ser852=)
c.349C>T
c.2397C>T (p.Ser799=)
c.2367C>T (p.Ser789=)
c.1782C>T (p.Ser594=)
c.2493C>T (p.Ser831=)
c.1719C>T (p.Ser573=)
c.1686C>T (p.Ser562=)
n.2720C>T
c.1899C>T (p.Ser633=)
n.2714C>T
Xg.53248783G>CCA413158107IQSEC2c.2556C>G (p.Ser852Arg)
c.349C>G
c.2397C>G (p.Ser799Arg)
c.2367C>G (p.Ser789Arg)
c.1782C>G (p.Ser594Arg)
c.2493C>G (p.Ser831Arg)
c.1719C>G (p.Ser573Arg)
c.1686C>G (p.Ser562Arg)
n.2720C>G
c.1899C>G (p.Ser633Arg)
n.2714C>G
Xg.53248783G>TCA413158110IQSEC2c.2556C>A (p.Ser852Arg)
c.349C>A
c.2397C>A (p.Ser799Arg)
c.2367C>A (p.Ser789Arg)
c.1782C>A (p.Ser594Arg)
c.2493C>A (p.Ser831Arg)
c.1719C>A (p.Ser573Arg)
c.1686C>A (p.Ser562Arg)
n.2720C>A
c.1899C>A (p.Ser633Arg)
n.2714C>A
Xg.53248784C>ACA413158114IQSEC2c.2555G>T (p.Ser852Ile)
c.348G>T
c.2396G>T (p.Ser799Ile)
c.2366G>T (p.Ser789Ile)
c.1781G>T (p.Ser594Ile)
c.2492G>T (p.Ser831Ile)
c.1718G>T (p.Ser573Ile)
c.1685G>T (p.Ser562Ile)
n.2719G>T
c.1898G>T (p.Ser633Ile)
n.2713G>T
 COSMIC COSMIC COSMIC
Xg.53248784C>GCA413158120IQSEC2c.2555G>C (p.Ser852Thr)
c.348G>C
c.2396G>C (p.Ser799Thr)
c.2366G>C (p.Ser789Thr)
c.1781G>C (p.Ser594Thr)
c.2492G>C (p.Ser831Thr)
c.1718G>C (p.Ser573Thr)
c.1685G>C (p.Ser562Thr)
n.2719G>C
c.1898G>C (p.Ser633Thr)
n.2713G>C
Xg.53248784C>TCA413158117IQSEC2c.2555G>A (p.Ser852Asn)
c.348G>A
c.2396G>A (p.Ser799Asn)
c.2366G>A (p.Ser789Asn)
c.1781G>A (p.Ser594Asn)
c.2492G>A (p.Ser831Asn)
c.1718G>A (p.Ser573Asn)
c.1685G>A (p.Ser562Asn)
n.2719G>A
c.1898G>A (p.Ser633Asn)
n.2713G>A
Xg.53248785T>ACA413158124IQSEC2c.2554A>T (p.Ser852Cys)
c.347A>T
c.2395A>T (p.Ser799Cys)
c.2365A>T (p.Ser789Cys)
c.1780A>T (p.Ser594Cys)
c.2491A>T (p.Ser831Cys)
c.1717A>T (p.Ser573Cys)
c.1684A>T (p.Ser562Cys)
n.2718A>T
c.1897A>T (p.Ser633Cys)
n.2712A>T
Xg.53248785T>CCA413158126IQSEC2c.2554A>G (p.Ser852Gly)
c.347A>G
c.2395A>G (p.Ser799Gly)
c.2365A>G (p.Ser789Gly)
c.1780A>G (p.Ser594Gly)
c.2491A>G (p.Ser831Gly)
c.1717A>G (p.Ser573Gly)
c.1684A>G (p.Ser562Gly)
n.2718A>G
c.1897A>G (p.Ser633Gly)
n.2712A>G
Xg.53248785T>GCA413158129IQSEC2c.2554A>C (p.Ser852Arg)
c.347A>C
c.2395A>C (p.Ser799Arg)
c.2365A>C (p.Ser789Arg)
c.1780A>C (p.Ser594Arg)
c.2491A>C (p.Ser831Arg)
c.1717A>C (p.Ser573Arg)
c.1684A>C (p.Ser562Arg)
n.2718A>C
c.1897A>C (p.Ser633Arg)
n.2712A>C
Xg.53248786G>ACA10419943IQSEC2c.2553C>T (p.Leu851=)
c.346C>T
c.2394C>T (p.Leu798=)
c.2364C>T (p.Leu788=)
c.1779C>T (p.Leu593=)
c.2490C>T (p.Leu830=)
c.1716C>T (p.Leu572=)
c.1683C>T (p.Leu561=)
n.2717C>T
c.1896C>T (p.Leu632=)
n.2711C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248786G>CCA516428777IQSEC2c.2553C>G (p.Leu851=)
c.346C>G
c.2394C>G (p.Leu798=)
c.2364C>G (p.Leu788=)
c.1779C>G (p.Leu593=)
c.2490C>G (p.Leu830=)
c.1716C>G (p.Leu572=)
c.1683C>G (p.Leu561=)
n.2717C>G
c.1896C>G (p.Leu632=)
n.2711C>G
 COSMIC COSMIC COSMIC
Xg.53248786G=CA2429775077IQSEC2c.2553C= (p.Leu851=)
c.346C=
c.2394C= (p.Leu798=)
c.2364C= (p.Leu788=)
c.1779C= (p.Leu593=)
c.2490C= (p.Leu830=)
c.1716C= (p.Leu572=)
c.1683C= (p.Leu561=)
n.2717C=
c.1896C= (p.Leu632=)
n.2711C=
Xg.53248786G>TCA516428780IQSEC2c.2553C>A (p.Leu851=)
c.346C>A
c.2394C>A (p.Leu798=)
c.2364C>A (p.Leu788=)
c.1779C>A (p.Leu593=)
c.2490C>A (p.Leu830=)
c.1716C>A (p.Leu572=)
c.1683C>A (p.Leu561=)
n.2717C>A
c.1896C>A (p.Leu632=)
n.2711C>A
Xg.53248787A>CCA413158136IQSEC2c.2552T>G (p.Leu851Arg)
c.345T>G
c.2393T>G (p.Leu798Arg)
c.2363T>G (p.Leu788Arg)
c.1778T>G (p.Leu593Arg)
c.2489T>G (p.Leu830Arg)
c.1715T>G (p.Leu572Arg)
c.1682T>G (p.Leu561Arg)
n.2716T>G
c.1895T>G (p.Leu632Arg)
n.2710T>G
Xg.53248787A>GCA413158146IQSEC2c.2552T>C (p.Leu851Pro)
c.345T>C
c.2393T>C (p.Leu798Pro)
c.2363T>C (p.Leu788Pro)
c.1778T>C (p.Leu593Pro)
c.2489T>C (p.Leu830Pro)
c.1715T>C (p.Leu572Pro)
c.1682T>C (p.Leu561Pro)
n.2716T>C
c.1895T>C (p.Leu632Pro)
n.2710T>C
Xg.53248787A>TCA413158148IQSEC2c.2552T>A (p.Leu851His)
c.345T>A
c.2393T>A (p.Leu798His)
c.2363T>A (p.Leu788His)
c.1778T>A (p.Leu593His)
c.2489T>A (p.Leu830His)
c.1715T>A (p.Leu572His)
c.1682T>A (p.Leu561His)
n.2716T>A
c.1895T>A (p.Leu632His)
n.2710T>A
Xg.53248788G>ACA413158151IQSEC2c.2551C>T (p.Leu851Phe)
c.344C>T
c.2392C>T (p.Leu798Phe)
c.2362C>T (p.Leu788Phe)
c.1777C>T (p.Leu593Phe)
c.2488C>T (p.Leu830Phe)
c.1714C>T (p.Leu572Phe)
c.1681C>T (p.Leu561Phe)
n.2715C>T
c.1894C>T (p.Leu632Phe)
n.2709C>T
Xg.53248788G>CCA413158153IQSEC2c.2551C>G (p.Leu851Val)
c.344C>G
c.2392C>G (p.Leu798Val)
c.2362C>G (p.Leu788Val)
c.1777C>G (p.Leu593Val)
c.2488C>G (p.Leu830Val)
c.1714C>G (p.Leu572Val)
c.1681C>G (p.Leu561Val)
n.2715C>G
c.1894C>G (p.Leu632Val)
n.2709C>G
Xg.53248788G>TCA413158158IQSEC2c.2551C>A (p.Leu851Ile)
c.344C>A
c.2392C>A (p.Leu798Ile)
c.2362C>A (p.Leu788Ile)
c.1777C>A (p.Leu593Ile)
c.2488C>A (p.Leu830Ile)
c.1714C>A (p.Leu572Ile)
c.1681C>A (p.Leu561Ile)
n.2715C>A
c.1894C>A (p.Leu632Ile)
n.2709C>A
Xg.53248789G>ACA516428784IQSEC2c.2550C>T (p.Gly850=)
c.343C>T
c.2391C>T (p.Gly797=)
c.2361C>T (p.Gly787=)
c.1776C>T (p.Gly592=)
c.2487C>T (p.Gly829=)
c.1713C>T (p.Gly571=)
c.1680C>T (p.Gly560=)
n.2714C>T
c.1893C>T (p.Gly631=)
n.2708C>T
Xg.53248789G>CCA516428786IQSEC2c.2550C>G (p.Gly850=)
c.343C>G
c.2391C>G (p.Gly797=)
c.2361C>G (p.Gly787=)
c.1776C>G (p.Gly592=)
c.2487C>G (p.Gly829=)
c.1713C>G (p.Gly571=)
c.1680C>G (p.Gly560=)
n.2714C>G
c.1893C>G (p.Gly631=)
n.2708C>G
Xg.53248789G>TCA516428787IQSEC2c.2550C>A (p.Gly850=)
c.343C>A
c.2391C>A (p.Gly797=)
c.2361C>A (p.Gly787=)
c.1776C>A (p.Gly592=)
c.2487C>A (p.Gly829=)
c.1713C>A (p.Gly571=)
c.1680C>A (p.Gly560=)
n.2714C>A
c.1893C>A (p.Gly631=)
n.2708C>A
Xg.53248790C>ACA413158161IQSEC2c.2549G>T (p.Gly850Val)
c.342G>T
c.2390G>T (p.Gly797Val)
c.2360G>T (p.Gly787Val)
c.1775G>T (p.Gly592Val)
c.2486G>T (p.Gly829Val)
c.1712G>T (p.Gly571Val)
c.1679G>T (p.Gly560Val)
n.2713G>T
c.1892G>T (p.Gly631Val)
n.2707G>T
Xg.53248790C>GCA413158163IQSEC2c.2549G>C (p.Gly850Ala)
c.342G>C
c.2390G>C (p.Gly797Ala)
c.2360G>C (p.Gly787Ala)
c.1775G>C (p.Gly592Ala)
c.2486G>C (p.Gly829Ala)
c.1712G>C (p.Gly571Ala)
c.1679G>C (p.Gly560Ala)
n.2713G>C
c.1892G>C (p.Gly631Ala)
n.2707G>C
Xg.53248790C>TCA413158167IQSEC2c.2549G>A (p.Gly850Asp)
c.342G>A
c.2390G>A (p.Gly797Asp)
c.2360G>A (p.Gly787Asp)
c.1775G>A (p.Gly592Asp)
c.2486G>A (p.Gly829Asp)
c.1712G>A (p.Gly571Asp)
c.1679G>A (p.Gly560Asp)
n.2713G>A
c.1892G>A (p.Gly631Asp)
n.2707G>A
Xg.53248791C>ACA413158171IQSEC2c.2548G>T (p.Gly850Cys)
c.341G>T
c.2389G>T (p.Gly797Cys)
c.2359G>T (p.Gly787Cys)
c.1774G>T (p.Gly592Cys)
c.2485G>T (p.Gly829Cys)
c.1711G>T (p.Gly571Cys)
c.1678G>T (p.Gly560Cys)
n.2712G>T
c.1891G>T (p.Gly631Cys)
n.2706G>T
 COSMIC COSMIC COSMIC
Xg.53248791C>GCA413158177IQSEC2c.2548G>C (p.Gly850Arg)
c.341G>C
c.2389G>C (p.Gly797Arg)
c.2359G>C (p.Gly787Arg)
c.1774G>C (p.Gly592Arg)
c.2485G>C (p.Gly829Arg)
c.1711G>C (p.Gly571Arg)
c.1678G>C (p.Gly560Arg)
n.2712G>C
c.1891G>C (p.Gly631Arg)
n.2706G>C
Xg.53248791C>TCA413158173IQSEC2c.2548G>A (p.Gly850Ser)
c.341G>A
c.2389G>A (p.Gly797Ser)
c.2359G>A (p.Gly787Ser)
c.1774G>A (p.Gly592Ser)
c.2485G>A (p.Gly829Ser)
c.1711G>A (p.Gly571Ser)
c.1678G>A (p.Gly560Ser)
n.2712G>A
c.1891G>A (p.Gly631Ser)
n.2706G>A
Xg.53248792T>ACA413158182IQSEC2c.2547A>T (p.Lys849Asn)
c.340A>T
c.2388A>T (p.Lys796Asn)
c.2358A>T (p.Lys786Asn)
c.1773A>T (p.Lys591Asn)
c.2484A>T (p.Lys828Asn)
c.1710A>T (p.Lys570Asn)
c.1677A>T (p.Lys559Asn)
n.2711A>T
c.1890A>T (p.Lys630Asn)
n.2705A>T
Xg.53248792T>CCA516428794IQSEC2c.2547A>G (p.Lys849=)
c.340A>G
c.2388A>G (p.Lys796=)
c.2358A>G (p.Lys786=)
c.1773A>G (p.Lys591=)
c.2484A>G (p.Lys828=)
c.1710A>G (p.Lys570=)
c.1677A>G (p.Lys559=)
n.2711A>G
c.1890A>G (p.Lys630=)
n.2705A>G
Xg.53248792T>GCA413158184IQSEC2c.2547A>C (p.Lys849Asn)
c.340A>C
c.2388A>C (p.Lys796Asn)
c.2358A>C (p.Lys786Asn)
c.1773A>C (p.Lys591Asn)
c.2484A>C (p.Lys828Asn)
c.1710A>C (p.Lys570Asn)
c.1677A>C (p.Lys559Asn)
n.2711A>C
c.1890A>C (p.Lys630Asn)
n.2705A>C
Xg.53248793T>ACA413158189IQSEC2c.2546A>T (p.Lys849Ile)
c.339A>T
c.2387A>T (p.Lys796Ile)
c.2357A>T (p.Lys786Ile)
c.1772A>T (p.Lys591Ile)
c.2483A>T (p.Lys828Ile)
c.1709A>T (p.Lys570Ile)
c.1676A>T (p.Lys559Ile)
n.2710A>T
c.1889A>T (p.Lys630Ile)
n.2704A>T
Xg.53248793T>CCA413158192IQSEC2c.2546A>G (p.Lys849Arg)
c.339A>G
c.2387A>G (p.Lys796Arg)
c.2357A>G (p.Lys786Arg)
c.1772A>G (p.Lys591Arg)
c.2483A>G (p.Lys828Arg)
c.1709A>G (p.Lys570Arg)
c.1676A>G (p.Lys559Arg)
n.2710A>G
c.1889A>G (p.Lys630Arg)
n.2704A>G
Xg.53248793T>GCA413158194IQSEC2c.2546A>C (p.Lys849Thr)
c.339A>C
c.2387A>C (p.Lys796Thr)
c.2357A>C (p.Lys786Thr)
c.1772A>C (p.Lys591Thr)
c.2483A>C (p.Lys828Thr)
c.1709A>C (p.Lys570Thr)
c.1676A>C (p.Lys559Thr)
n.2710A>C
c.1889A>C (p.Lys630Thr)
n.2704A>C
Xg.53248794T>ACA413158199IQSEC2c.2545A>T (p.Lys849Ter)
c.338A>T
c.2386A>T (p.Lys796Ter)
c.2356A>T (p.Lys786Ter)
c.1771A>T (p.Lys591Ter)
c.2482A>T (p.Lys828Ter)
c.1708A>T (p.Lys570Ter)
c.1675A>T (p.Lys559Ter)
n.2709A>T
c.1888A>T (p.Lys630Ter)
n.2703A>T
Xg.53248794T>CCA413158202IQSEC2c.2545A>G (p.Lys849Glu)
c.338A>G
c.2386A>G (p.Lys796Glu)
c.2356A>G (p.Lys786Glu)
c.1771A>G (p.Lys591Glu)
c.2482A>G (p.Lys828Glu)
c.1708A>G (p.Lys570Glu)
c.1675A>G (p.Lys559Glu)
n.2709A>G
c.1888A>G (p.Lys630Glu)
n.2703A>G
Xg.53248794T>GCA413158204IQSEC2c.2545A>C (p.Lys849Gln)
c.338A>C
c.2386A>C (p.Lys796Gln)
c.2356A>C (p.Lys786Gln)
c.1771A>C (p.Lys591Gln)
c.2482A>C (p.Lys828Gln)
c.1708A>C (p.Lys570Gln)
c.1675A>C (p.Lys559Gln)
n.2709A>C
c.1888A>C (p.Lys630Gln)
n.2703A>C
Xg.53248795C>ACA516428807IQSEC2c.2544G>T (p.Arg848=)
c.337G>T
c.2385G>T (p.Arg795=)
c.2355G>T (p.Arg785=)
c.1770G>T (p.Arg590=)
c.2481G>T (p.Arg827=)
c.1707G>T (p.Arg569=)
c.1674G>T (p.Arg558=)
n.2708G>T
c.1887G>T (p.Arg629=)
n.2702G>T
Xg.53248795C>GCA516428805IQSEC2c.2544G>C (p.Arg848=)
c.337G>C
c.2385G>C (p.Arg795=)
c.2355G>C (p.Arg785=)
c.1770G>C (p.Arg590=)
c.2481G>C (p.Arg827=)
c.1707G>C (p.Arg569=)
c.1674G>C (p.Arg558=)
n.2708G>C
c.1887G>C (p.Arg629=)
n.2702G>C
Xg.53248795C>TCA516428804IQSEC2c.2544G>A (p.Arg848=)
c.337G>A
c.2385G>A (p.Arg795=)
c.2355G>A (p.Arg785=)
c.1770G>A (p.Arg590=)
c.2481G>A (p.Arg827=)
c.1707G>A (p.Arg569=)
c.1674G>A (p.Arg558=)
n.2708G>A
c.1887G>A (p.Arg629=)
n.2702G>A
Xg.53248796C>ACA413158210IQSEC2c.2543G>T (p.Arg848Leu)
c.336G>T
c.2384G>T (p.Arg795Leu)
c.2354G>T (p.Arg785Leu)
c.1769G>T (p.Arg590Leu)
c.2480G>T (p.Arg827Leu)
c.1706G>T (p.Arg569Leu)
c.1673G>T (p.Arg558Leu)
n.2707G>T
c.1886G>T (p.Arg629Leu)
n.2701G>T
Xg.53248796C>GCA413158213IQSEC2c.2543G>C (p.Arg848Pro)
c.336G>C
c.2384G>C (p.Arg795Pro)
c.2354G>C (p.Arg785Pro)
c.1769G>C (p.Arg590Pro)
c.2480G>C (p.Arg827Pro)
c.1706G>C (p.Arg569Pro)
c.1673G>C (p.Arg558Pro)
n.2707G>C
c.1886G>C (p.Arg629Pro)
n.2701G>C
Xg.53248796C>TCA413158215IQSEC2c.2543G>A (p.Arg848Gln)
c.336G>A
c.2384G>A (p.Arg795Gln)
c.2354G>A (p.Arg785Gln)
c.1769G>A (p.Arg590Gln)
c.2480G>A (p.Arg827Gln)
c.1706G>A (p.Arg569Gln)
c.1673G>A (p.Arg558Gln)
n.2707G>A
c.1886G>A (p.Arg629Gln)
n.2701G>A
 ClinVar dbSNP
Xg.53248797G>ACA413158221IQSEC2c.2542C>T (p.Arg848Trp)
c.335C>T
c.2383C>T (p.Arg795Trp)
c.2353C>T (p.Arg785Trp)
c.1768C>T (p.Arg590Trp)
c.2479C>T (p.Arg827Trp)
c.1705C>T (p.Arg569Trp)
c.1672C>T (p.Arg558Trp)
n.2706C>T
c.1885C>T (p.Arg629Trp)
n.2700C>T
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248797G>CCA413158219IQSEC2c.2542C>G (p.Arg848Gly)
c.335C>G
c.2383C>G (p.Arg795Gly)
c.2353C>G (p.Arg785Gly)
c.1768C>G (p.Arg590Gly)
c.2479C>G (p.Arg827Gly)
c.1705C>G (p.Arg569Gly)
c.1672C>G (p.Arg558Gly)
n.2706C>G
c.1885C>G (p.Arg629Gly)
n.2700C>G
Xg.53248797G>TCA516428813IQSEC2c.2542C>A (p.Arg848=)
c.335C>A
c.2383C>A (p.Arg795=)
c.2353C>A (p.Arg785=)
c.1768C>A (p.Arg590=)
c.2479C>A (p.Arg827=)
c.1705C>A (p.Arg569=)
c.1672C>A (p.Arg558=)
n.2706C>A
c.1885C>A (p.Arg629=)
n.2700C>A
Xg.53248798C>ACA413158226IQSEC2c.2541G>T (p.Glu847Asp)
c.334G>T
c.2382G>T (p.Glu794Asp)
c.2352G>T (p.Glu784Asp)
c.1767G>T (p.Glu589Asp)
c.2478G>T (p.Glu826Asp)
c.1704G>T (p.Glu568Asp)
c.1671G>T (p.Glu557Asp)
n.2705G>T
c.1884G>T (p.Glu628Asp)
n.2699G>T
Xg.53248798C>GCA413158229IQSEC2c.2541G>C (p.Glu847Asp)
c.334G>C
c.2382G>C (p.Glu794Asp)
c.2352G>C (p.Glu784Asp)
c.1767G>C (p.Glu589Asp)
c.2478G>C (p.Glu826Asp)
c.1704G>C (p.Glu568Asp)
c.1671G>C (p.Glu557Asp)
n.2705G>C
c.1884G>C (p.Glu628Asp)
n.2699G>C
Xg.53248798C>TCA516428817IQSEC2c.2541G>A (p.Glu847=)
c.334G>A
c.2382G>A (p.Glu794=)
c.2352G>A (p.Glu784=)
c.1767G>A (p.Glu589=)
c.2478G>A (p.Glu826=)
c.1704G>A (p.Glu568=)
c.1671G>A (p.Glu557=)
n.2705G>A
c.1884G>A (p.Glu628=)
n.2699G>A
 gnomAD v4
Xg.53248799T>ACA413158233IQSEC2c.2540A>T (p.Glu847Val)
c.333A>T
c.2381A>T (p.Glu794Val)
c.2351A>T (p.Glu784Val)
c.1766A>T (p.Glu589Val)
c.2477A>T (p.Glu826Val)
c.1703A>T (p.Glu568Val)
c.1670A>T (p.Glu557Val)
n.2704A>T
c.1883A>T (p.Glu628Val)
n.2698A>T
Xg.53248799T>CCA413158235IQSEC2c.2540A>G (p.Glu847Gly)
c.333A>G
c.2381A>G (p.Glu794Gly)
c.2351A>G (p.Glu784Gly)
c.1766A>G (p.Glu589Gly)
c.2477A>G (p.Glu826Gly)
c.1703A>G (p.Glu568Gly)
c.1670A>G (p.Glu557Gly)
n.2704A>G
c.1883A>G (p.Glu628Gly)
n.2698A>G
Xg.53248799T>GCA413158238IQSEC2c.2540A>C (p.Glu847Ala)
c.333A>C
c.2381A>C (p.Glu794Ala)
c.2351A>C (p.Glu784Ala)
c.1766A>C (p.Glu589Ala)
c.2477A>C (p.Glu826Ala)
c.1703A>C (p.Glu568Ala)
c.1670A>C (p.Glu557Ala)
n.2704A>C
c.1883A>C (p.Glu628Ala)
n.2698A>C
Xg.53248800C>ACA413158248IQSEC2c.2539G>T (p.Glu847Ter)
c.332G>T
c.2380G>T (p.Glu794Ter)
c.2350G>T (p.Glu784Ter)
c.1765G>T (p.Glu589Ter)
c.2476G>T (p.Glu826Ter)
c.1702G>T (p.Glu568Ter)
c.1669G>T (p.Glu557Ter)
n.2703G>T
c.1882G>T (p.Glu628Ter)
n.2697G>T
 ClinVar dbSNP
Xg.53248800C=CA2429775078IQSEC2c.2539G= (p.Glu847=)
c.332G=
c.2380G= (p.Glu794=)
c.2350G= (p.Glu784=)
c.1765G= (p.Glu589=)
c.2476G= (p.Glu826=)
c.1702G= (p.Glu568=)
c.1669G= (p.Glu557=)
n.2703G=
c.1882G= (p.Glu628=)
n.2697G=
Xg.53248800C>GCA413158245IQSEC2c.2539G>C (p.Glu847Gln)
c.332G>C
c.2380G>C (p.Glu794Gln)
c.2350G>C (p.Glu784Gln)
c.1765G>C (p.Glu589Gln)
c.2476G>C (p.Glu826Gln)
c.1702G>C (p.Glu568Gln)
c.1669G>C (p.Glu557Gln)
n.2703G>C
c.1882G>C (p.Glu628Gln)
n.2697G>C
 dbSNP gnomAD v4
Xg.53248800C>TCA413158242IQSEC2c.2539G>A (p.Glu847Lys)
c.332G>A
c.2380G>A (p.Glu794Lys)
c.2350G>A (p.Glu784Lys)
c.1765G>A (p.Glu589Lys)
c.2476G>A (p.Glu826Lys)
c.1702G>A (p.Glu568Lys)
c.1669G>A (p.Glu557Lys)
n.2703G>A
c.1882G>A (p.Glu628Lys)
n.2697G>A
Xg.53248801C>ACA516428825IQSEC2c.2538G>T (p.Leu846=)
c.331G>T
c.2379G>T (p.Leu793=)
c.2349G>T (p.Leu783=)
c.1764G>T (p.Leu588=)
c.2475G>T (p.Leu825=)
c.1701G>T (p.Leu567=)
c.1668G>T (p.Leu556=)
n.2702G>T
c.1881G>T (p.Leu627=)
n.2696G>T
Xg.53248801C>GCA516428826IQSEC2c.2538G>C (p.Leu846=)
c.331G>C
c.2379G>C (p.Leu793=)
c.2349G>C (p.Leu783=)
c.1764G>C (p.Leu588=)
c.2475G>C (p.Leu825=)
c.1701G>C (p.Leu567=)
c.1668G>C (p.Leu556=)
n.2702G>C
c.1881G>C (p.Leu627=)
n.2696G>C
Xg.53248801C>TCA516428827IQSEC2c.2538G>A (p.Leu846=)
c.331G>A
c.2379G>A (p.Leu793=)
c.2349G>A (p.Leu783=)
c.1764G>A (p.Leu588=)
c.2475G>A (p.Leu825=)
c.1701G>A (p.Leu567=)
c.1668G>A (p.Leu556=)
n.2702G>A
c.1881G>A (p.Leu627=)
n.2696G>A
Xg.53248802A>CCA413158252IQSEC2c.2537T>G (p.Leu846Arg)
c.330T>G
c.2378T>G (p.Leu793Arg)
c.2348T>G (p.Leu783Arg)
c.1763T>G (p.Leu588Arg)
c.2474T>G (p.Leu825Arg)
c.1700T>G (p.Leu567Arg)
c.1667T>G (p.Leu556Arg)
n.2701T>G
c.1880T>G (p.Leu627Arg)
n.2695T>G
Xg.53248802A>GCA413158254IQSEC2c.2537T>C (p.Leu846Pro)
c.330T>C
c.2378T>C (p.Leu793Pro)
c.2348T>C (p.Leu783Pro)
c.1763T>C (p.Leu588Pro)
c.2474T>C (p.Leu825Pro)
c.1700T>C (p.Leu567Pro)
c.1667T>C (p.Leu556Pro)
n.2701T>C
c.1880T>C (p.Leu627Pro)
n.2695T>C
 ClinVar
Xg.53248802A>TCA413158257IQSEC2c.2537T>A (p.Leu846Gln)
c.330T>A
c.2378T>A (p.Leu793Gln)
c.2348T>A (p.Leu783Gln)
c.1763T>A (p.Leu588Gln)
c.2474T>A (p.Leu825Gln)
c.1700T>A (p.Leu567Gln)
c.1667T>A (p.Leu556Gln)
n.2701T>A
c.1880T>A (p.Leu627Gln)
n.2695T>A
Xg.53248803G>ACA516428830IQSEC2c.2536C>T (p.Leu846=)
c.329C>T
c.2377C>T (p.Leu793=)
c.2347C>T (p.Leu783=)
c.1762C>T (p.Leu588=)
c.2473C>T (p.Leu825=)
c.1699C>T (p.Leu567=)
c.1666C>T (p.Leu556=)
n.2700C>T
c.1879C>T (p.Leu627=)
n.2694C>T
 gnomAD v4
Xg.53248803G>CCA413158261IQSEC2c.2536C>G (p.Leu846Val)
c.329C>G
c.2377C>G (p.Leu793Val)
c.2347C>G (p.Leu783Val)
c.1762C>G (p.Leu588Val)
c.2473C>G (p.Leu825Val)
c.1699C>G (p.Leu567Val)
c.1666C>G (p.Leu556Val)
n.2700C>G
c.1879C>G (p.Leu627Val)
n.2694C>G
Xg.53248803G>TCA413158264IQSEC2c.2536C>A (p.Leu846Met)
c.329C>A
c.2377C>A (p.Leu793Met)
c.2347C>A (p.Leu783Met)
c.1762C>A (p.Leu588Met)
c.2473C>A (p.Leu825Met)
c.1699C>A (p.Leu567Met)
c.1666C>A (p.Leu556Met)
n.2700C>A
c.1879C>A (p.Leu627Met)
n.2694C>A
Xg.53248804G>ACA516428832IQSEC2c.2535C>T (p.Ile845=)
c.328C>T
c.2376C>T (p.Ile792=)
c.2346C>T (p.Ile782=)
c.1761C>T (p.Ile587=)
c.2472C>T (p.Ile824=)
c.1698C>T (p.Ile566=)
c.1665C>T (p.Ile555=)
n.2699C>T
c.1878C>T (p.Ile626=)
n.2693C>T
Xg.53248804G>CCA413158268IQSEC2c.2535C>G (p.Ile845Met)
c.328C>G
c.2376C>G (p.Ile792Met)
c.2346C>G (p.Ile782Met)
c.1761C>G (p.Ile587Met)
c.2472C>G (p.Ile824Met)
c.1698C>G (p.Ile566Met)
c.1665C>G (p.Ile555Met)
n.2699C>G
c.1878C>G (p.Ile626Met)
n.2693C>G
Xg.53248804G>TCA516428834IQSEC2c.2535C>A (p.Ile845=)
c.328C>A
c.2376C>A (p.Ile792=)
c.2346C>A (p.Ile782=)
c.1761C>A (p.Ile587=)
c.2472C>A (p.Ile824=)
c.1698C>A (p.Ile566=)
c.1665C>A (p.Ile555=)
n.2699C>A
c.1878C>A (p.Ile626=)
n.2693C>A
Xg.53248805A>CCA413158278IQSEC2c.2534T>G (p.Ile845Ser)
c.327T>G
c.2375T>G (p.Ile792Ser)
c.2345T>G (p.Ile782Ser)
c.1760T>G (p.Ile587Ser)
c.2471T>G (p.Ile824Ser)
c.1697T>G (p.Ile566Ser)
c.1664T>G (p.Ile555Ser)
n.2698T>G
c.1877T>G (p.Ile626Ser)
n.2692T>G
Xg.53248805A>GCA413158272IQSEC2c.2534T>C (p.Ile845Thr)
c.327T>C
c.2375T>C (p.Ile792Thr)
c.2345T>C (p.Ile782Thr)
c.1760T>C (p.Ile587Thr)
c.2471T>C (p.Ile824Thr)
c.1697T>C (p.Ile566Thr)
c.1664T>C (p.Ile555Thr)
n.2698T>C
c.1877T>C (p.Ile626Thr)
n.2692T>C
Xg.53248805A>TCA413158275IQSEC2c.2534T>A (p.Ile845Asn)
c.327T>A
c.2375T>A (p.Ile792Asn)
c.2345T>A (p.Ile782Asn)
c.1760T>A (p.Ile587Asn)
c.2471T>A (p.Ile824Asn)
c.1697T>A (p.Ile566Asn)
c.1664T>A (p.Ile555Asn)
n.2698T>A
c.1877T>A (p.Ile626Asn)
n.2692T>A
Xg.53248806T>ACA413158282IQSEC2c.2533A>T (p.Ile845Phe)
c.326A>T
c.2374A>T (p.Ile792Phe)
c.2344A>T (p.Ile782Phe)
c.1759A>T (p.Ile587Phe)
c.2470A>T (p.Ile824Phe)
c.1696A>T (p.Ile566Phe)
c.1663A>T (p.Ile555Phe)
n.2697A>T
c.1876A>T (p.Ile626Phe)
n.2691A>T
Xg.53248806T>CCA413158285IQSEC2c.2533A>G (p.Ile845Val)
c.326A>G
c.2374A>G (p.Ile792Val)
c.2344A>G (p.Ile782Val)
c.1759A>G (p.Ile587Val)
c.2470A>G (p.Ile824Val)
c.1696A>G (p.Ile566Val)
c.1663A>G (p.Ile555Val)
n.2697A>G
c.1876A>G (p.Ile626Val)
n.2691A>G
Xg.53248806T>GCA413158288IQSEC2c.2533A>C (p.Ile845Leu)
c.326A>C
c.2374A>C (p.Ile792Leu)
c.2344A>C (p.Ile782Leu)
c.1759A>C (p.Ile587Leu)
c.2470A>C (p.Ile824Leu)
c.1696A>C (p.Ile566Leu)
c.1663A>C (p.Ile555Leu)
n.2697A>C
c.1876A>C (p.Ile626Leu)
n.2691A>C
 gnomAD v4
Xg.53248807G>ACA516428842IQSEC2c.2532C>T (p.Phe844=)
c.325C>T
c.2373C>T (p.Phe791=)
c.2343C>T (p.Phe781=)
c.1758C>T (p.Phe586=)
c.2469C>T (p.Phe823=)
c.1695C>T (p.Phe565=)
c.1662C>T (p.Phe554=)
n.2696C>T
c.1875C>T (p.Phe625=)
n.2690C>T
 dbSNP
Xg.53248807G>CCA413158293IQSEC2c.2532C>G (p.Phe844Leu)
c.325C>G
c.2373C>G (p.Phe791Leu)
c.2343C>G (p.Phe781Leu)
c.1758C>G (p.Phe586Leu)
c.2469C>G (p.Phe823Leu)
c.1695C>G (p.Phe565Leu)
c.1662C>G (p.Phe554Leu)
n.2696C>G
c.1875C>G (p.Phe625Leu)
n.2690C>G
 dbSNP
Xg.53248807G=CA2429775079IQSEC2c.2532C= (p.Phe844=)
c.325C=
c.2373C= (p.Phe791=)
c.2343C= (p.Phe781=)
c.1758C= (p.Phe586=)
c.2469C= (p.Phe823=)
c.1695C= (p.Phe565=)
c.1662C= (p.Phe554=)
n.2696C=
c.1875C= (p.Phe625=)
n.2690C=
Xg.53248807G>TCA413158295IQSEC2c.2532C>A (p.Phe844Leu)
c.325C>A
c.2373C>A (p.Phe791Leu)
c.2343C>A (p.Phe781Leu)
c.1758C>A (p.Phe586Leu)
c.2469C>A (p.Phe823Leu)
c.1695C>A (p.Phe565Leu)
c.1662C>A (p.Phe554Leu)
n.2696C>A
c.1875C>A (p.Phe625Leu)
n.2690C>A
Xg.53248808A>CCA413158300IQSEC2c.2531T>G (p.Phe844Cys)
c.324T>G
c.2372T>G (p.Phe791Cys)
c.2342T>G (p.Phe781Cys)
c.1757T>G (p.Phe586Cys)
c.2468T>G (p.Phe823Cys)
c.1694T>G (p.Phe565Cys)
c.1661T>G (p.Phe554Cys)
n.2695T>G
c.1874T>G (p.Phe625Cys)
n.2689T>G
Xg.53248808A>GCA413158303IQSEC2c.2531T>C (p.Phe844Ser)
c.324T>C
c.2372T>C (p.Phe791Ser)
c.2342T>C (p.Phe781Ser)
c.1757T>C (p.Phe586Ser)
c.2468T>C (p.Phe823Ser)
c.1694T>C (p.Phe565Ser)
c.1661T>C (p.Phe554Ser)
n.2695T>C
c.1874T>C (p.Phe625Ser)
n.2689T>C
Xg.53248808A>TCA413158306IQSEC2c.2531T>A (p.Phe844Tyr)
c.324T>A
c.2372T>A (p.Phe791Tyr)
c.2342T>A (p.Phe781Tyr)
c.1757T>A (p.Phe586Tyr)
c.2468T>A (p.Phe823Tyr)
c.1694T>A (p.Phe565Tyr)
c.1661T>A (p.Phe554Tyr)
n.2695T>A
c.1874T>A (p.Phe625Tyr)
n.2689T>A
Xg.53248809A>CCA413158310IQSEC2c.2530T>G (p.Phe844Val)
c.323T>G
c.2371T>G (p.Phe791Val)
c.2341T>G (p.Phe781Val)
c.1756T>G (p.Phe586Val)
c.2467T>G (p.Phe823Val)
c.1693T>G (p.Phe565Val)
c.1660T>G (p.Phe554Val)
n.2694T>G
c.1873T>G (p.Phe625Val)
n.2688T>G
Xg.53248809A>GCA413158313IQSEC2c.2530T>C (p.Phe844Leu)
c.323T>C
c.2371T>C (p.Phe791Leu)
c.2341T>C (p.Phe781Leu)
c.1756T>C (p.Phe586Leu)
c.2467T>C (p.Phe823Leu)
c.1693T>C (p.Phe565Leu)
c.1660T>C (p.Phe554Leu)
n.2694T>C
c.1873T>C (p.Phe625Leu)
n.2688T>C
Xg.53248809A>TCA413158316IQSEC2c.2530T>A (p.Phe844Ile)
c.323T>A
c.2371T>A (p.Phe791Ile)
c.2341T>A (p.Phe781Ile)
c.1756T>A (p.Phe586Ile)
c.2467T>A (p.Phe823Ile)
c.1693T>A (p.Phe565Ile)
c.1660T>A (p.Phe554Ile)
n.2694T>A
c.1873T>A (p.Phe625Ile)
n.2688T>A
Xg.53248810G>ACA516428846IQSEC2c.2529C>T (p.His843=)
c.322C>T
c.2370C>T (p.His790=)
c.2340C>T (p.His780=)
c.1755C>T (p.His585=)
c.2466C>T (p.His822=)
c.1692C>T (p.His564=)
c.1659C>T (p.His553=)
n.2693C>T
c.1872C>T (p.His624=)
n.2687C>T
Xg.53248810G>CCA413158321IQSEC2c.2529C>G (p.His843Gln)
c.322C>G
c.2370C>G (p.His790Gln)
c.2340C>G (p.His780Gln)
c.1755C>G (p.His585Gln)
c.2466C>G (p.His822Gln)
c.1692C>G (p.His564Gln)
c.1659C>G (p.His553Gln)
n.2693C>G
c.1872C>G (p.His624Gln)
n.2687C>G
 gnomAD v4
Xg.53248810G>TCA413158323IQSEC2c.2529C>A (p.His843Gln)
c.322C>A
c.2370C>A (p.His790Gln)
c.2340C>A (p.His780Gln)
c.1755C>A (p.His585Gln)
c.2466C>A (p.His822Gln)
c.1692C>A (p.His564Gln)
c.1659C>A (p.His553Gln)
n.2693C>A
c.1872C>A (p.His624Gln)
n.2687C>A
Xg.53248811T>ACA413158328IQSEC2c.2528A>T (p.His843Leu)
c.321A>T
c.2369A>T (p.His790Leu)
c.2339A>T (p.His780Leu)
c.1754A>T (p.His585Leu)
c.2465A>T (p.His822Leu)
c.1691A>T (p.His564Leu)
c.1658A>T (p.His553Leu)
n.2692A>T
c.1871A>T (p.His624Leu)
n.2686A>T
Xg.53248811T>CCA413158333IQSEC2c.2528A>G (p.His843Arg)
c.321A>G
c.2369A>G (p.His790Arg)
c.2339A>G (p.His780Arg)
c.1754A>G (p.His585Arg)
c.2465A>G (p.His822Arg)
c.1691A>G (p.His564Arg)
c.1658A>G (p.His553Arg)
n.2692A>G
c.1871A>G (p.His624Arg)
n.2686A>G
Xg.53248811T>GCA413158331IQSEC2c.2528A>C (p.His843Pro)
c.321A>C
c.2369A>C (p.His790Pro)
c.2339A>C (p.His780Pro)
c.1754A>C (p.His585Pro)
c.2465A>C (p.His822Pro)
c.1691A>C (p.His564Pro)
c.1658A>C (p.His553Pro)
n.2692A>C
c.1871A>C (p.His624Pro)
n.2686A>C
 ClinVar dbSNP
Xg.53248812G>ACA413158338IQSEC2c.2527C>T (p.His843Tyr)
c.320C>T
c.2368C>T (p.His790Tyr)
c.2338C>T (p.His780Tyr)
c.1753C>T (p.His585Tyr)
c.2464C>T (p.His822Tyr)
c.1690C>T (p.His564Tyr)
c.1657C>T (p.His553Tyr)
n.2691C>T
c.1870C>T (p.His624Tyr)
n.2685C>T
Xg.53248812G>CCA413158343IQSEC2c.2527C>G (p.His843Asp)
c.320C>G
c.2368C>G (p.His790Asp)
c.2338C>G (p.His780Asp)
c.1753C>G (p.His585Asp)
c.2464C>G (p.His822Asp)
c.1690C>G (p.His564Asp)
c.1657C>G (p.His553Asp)
n.2691C>G
c.1870C>G (p.His624Asp)
n.2685C>G
Xg.53248812G>TCA413158340IQSEC2c.2527C>A (p.His843Asn)
c.320C>A
c.2368C>A (p.His790Asn)
c.2338C>A (p.His780Asn)
c.1753C>A (p.His585Asn)
c.2464C>A (p.His822Asn)
c.1690C>A (p.His564Asn)
c.1657C>A (p.His553Asn)
n.2691C>A
c.1870C>A (p.His624Asn)
n.2685C>A
Xg.53248812dupCA2843560943IQSEC2c.2527dup (p.His843ProfsTer?)
c.320dup
c.2368dup (p.His790ProfsTer?)
c.2338dup (p.His780ProfsTer?)
c.1753dup (p.His585ProfsTer?)
c.2464dup (p.His822ProfsTer?)
c.1690dup (p.His564ProfsTer?)
c.1657dup (p.His553ProfsTer?)
n.2691dup
c.1870dup (p.His624ProfsTer?)
n.2685dup
Xg.53248813A>CCA516428850IQSEC2c.2526T>G (p.Ala842=)
c.319T>G
c.2367T>G (p.Ala789=)
c.2337T>G (p.Ala779=)
c.1752T>G (p.Ala584=)
c.2463T>G (p.Ala821=)
c.1689T>G (p.Ala563=)
c.1656T>G (p.Ala552=)
n.2690T>G
c.1869T>G (p.Ala623=)
n.2684T>G
Xg.53248813A>GCA516428848IQSEC2c.2526T>C (p.Ala842=)
c.319T>C
c.2367T>C (p.Ala789=)
c.2337T>C (p.Ala779=)
c.1752T>C (p.Ala584=)
c.2463T>C (p.Ala821=)
c.1689T>C (p.Ala563=)
c.1656T>C (p.Ala552=)
n.2690T>C
c.1869T>C (p.Ala623=)
n.2684T>C
Xg.53248813A>TCA516428847IQSEC2c.2526T>A (p.Ala842=)
c.319T>A
c.2367T>A (p.Ala789=)
c.2337T>A (p.Ala779=)
c.1752T>A (p.Ala584=)
c.2463T>A (p.Ala821=)
c.1689T>A (p.Ala563=)
c.1656T>A (p.Ala552=)
n.2690T>A
c.1869T>A (p.Ala623=)
n.2684T>A
Xg.53248814G>ACA10576119IQSEC2c.2525C>T (p.Ala842Val)
c.318C>T
c.2366C>T (p.Ala789Val)
c.2336C>T (p.Ala779Val)
c.1751C>T (p.Ala584Val)
c.2462C>T (p.Ala821Val)
c.1688C>T (p.Ala563Val)
c.1655C>T (p.Ala552Val)
n.2689C>T
c.1868C>T (p.Ala623Val)
n.2683C>T
 ClinVar dbSNP
Xg.53248814G>CCA413158351IQSEC2c.2525C>G (p.Ala842Gly)
c.318C>G
c.2366C>G (p.Ala789Gly)
c.2336C>G (p.Ala779Gly)
c.1751C>G (p.Ala584Gly)
c.2462C>G (p.Ala821Gly)
c.1688C>G (p.Ala563Gly)
c.1655C>G (p.Ala552Gly)
n.2689C>G
c.1868C>G (p.Ala623Gly)
n.2683C>G
Xg.53248814G=CA2429775080IQSEC2c.2525C= (p.Ala842=)
c.318C=
c.2366C= (p.Ala789=)
c.2336C= (p.Ala779=)
c.1751C= (p.Ala584=)
c.2462C= (p.Ala821=)
c.1688C= (p.Ala563=)
c.1655C= (p.Ala552=)
n.2689C=
c.1868C= (p.Ala623=)
n.2683C=
Xg.53248814G>TCA413158354IQSEC2c.2525C>A (p.Ala842Asp)
c.318C>A
c.2366C>A (p.Ala789Asp)
c.2336C>A (p.Ala779Asp)
c.1751C>A (p.Ala584Asp)
c.2462C>A (p.Ala821Asp)
c.1688C>A (p.Ala563Asp)
c.1655C>A (p.Ala552Asp)
n.2689C>A
c.1868C>A (p.Ala623Asp)
n.2683C>A
Xg.53248815C>ACA413158360IQSEC2c.2524G>T (p.Ala842Ser)
c.317G>T
c.2365G>T (p.Ala789Ser)
c.2335G>T (p.Ala779Ser)
c.1750G>T (p.Ala584Ser)
c.2461G>T (p.Ala821Ser)
c.1687G>T (p.Ala563Ser)
c.1654G>T (p.Ala552Ser)
n.2688G>T
c.1867G>T (p.Ala623Ser)
n.2682G>T
Xg.53248815C>GCA413158362IQSEC2c.2524G>C (p.Ala842Pro)
c.317G>C
c.2365G>C (p.Ala789Pro)
c.2335G>C (p.Ala779Pro)
c.1750G>C (p.Ala584Pro)
c.2461G>C (p.Ala821Pro)
c.1687G>C (p.Ala563Pro)
c.1654G>C (p.Ala552Pro)
n.2688G>C
c.1867G>C (p.Ala623Pro)
n.2682G>C
Xg.53248815C>TCA413158365IQSEC2c.2524G>A (p.Ala842Thr)
c.317G>A
c.2365G>A (p.Ala789Thr)
c.2335G>A (p.Ala779Thr)
c.1750G>A (p.Ala584Thr)
c.2461G>A (p.Ala821Thr)
c.1687G>A (p.Ala563Thr)
c.1654G>A (p.Ala552Thr)
n.2688G>A
c.1867G>A (p.Ala623Thr)
n.2682G>A
Xg.53248816C>ACA516428853IQSEC2c.2523G>T (p.Val841=)
c.316G>T
c.2364G>T (p.Val788=)
c.2334G>T (p.Val778=)
c.1749G>T (p.Val583=)
c.2460G>T (p.Val820=)
c.1686G>T (p.Val562=)
c.1653G>T (p.Val551=)
n.2687G>T
c.1866G>T (p.Val622=)
n.2681G>T
 COSMIC COSMIC
Xg.53248816C>GCA516428854IQSEC2c.2523G>C (p.Val841=)
c.316G>C
c.2364G>C (p.Val788=)
c.2334G>C (p.Val778=)
c.1749G>C (p.Val583=)
c.2460G>C (p.Val820=)
c.1686G>C (p.Val562=)
c.1653G>C (p.Val551=)
n.2687G>C
c.1866G>C (p.Val622=)
n.2681G>C
Xg.53248816C>TCA516428855IQSEC2c.2523G>A (p.Val841=)
c.316G>A
c.2364G>A (p.Val788=)
c.2334G>A (p.Val778=)
c.1749G>A (p.Val583=)
c.2460G>A (p.Val820=)
c.1686G>A (p.Val562=)
c.1653G>A (p.Val551=)
n.2687G>A
c.1866G>A (p.Val622=)
n.2681G>A
 gnomAD v4
Xg.53248817A>CCA413158369IQSEC2c.2522T>G (p.Val841Gly)
c.315T>G
c.2363T>G (p.Val788Gly)
c.2333T>G (p.Val778Gly)
c.1748T>G (p.Val583Gly)
c.2459T>G (p.Val820Gly)
c.1685T>G (p.Val562Gly)
c.1652T>G (p.Val551Gly)
n.2686T>G
c.1865T>G (p.Val622Gly)
n.2680T>G
Xg.53248817A>GCA413158371IQSEC2c.2522T>C (p.Val841Ala)
c.315T>C
c.2363T>C (p.Val788Ala)
c.2333T>C (p.Val778Ala)
c.1748T>C (p.Val583Ala)
c.2459T>C (p.Val820Ala)
c.1685T>C (p.Val562Ala)
c.1652T>C (p.Val551Ala)
n.2686T>C
c.1865T>C (p.Val622Ala)
n.2680T>C
Xg.53248817A>TCA413158373IQSEC2c.2522T>A (p.Val841Glu)
c.315T>A
c.2363T>A (p.Val788Glu)
c.2333T>A (p.Val778Glu)
c.1748T>A (p.Val583Glu)
c.2459T>A (p.Val820Glu)
c.1685T>A (p.Val562Glu)
c.1652T>A (p.Val551Glu)
n.2686T>A
c.1865T>A (p.Val622Glu)
n.2680T>A
Xg.53248818C>ACA413158378IQSEC2c.2521G>T (p.Val841Leu)
c.314G>T
c.2362G>T (p.Val788Leu)
c.2332G>T (p.Val778Leu)
c.1747G>T (p.Val583Leu)
c.2458G>T (p.Val820Leu)
c.1684G>T (p.Val562Leu)
c.1651G>T (p.Val551Leu)
n.2685G>T
c.1864G>T (p.Val622Leu)
n.2679G>T
Xg.53248818C>GCA413158382IQSEC2c.2521G>C (p.Val841Leu)
c.314G>C
c.2362G>C (p.Val788Leu)
c.2332G>C (p.Val778Leu)
c.1747G>C (p.Val583Leu)
c.2458G>C (p.Val820Leu)
c.1684G>C (p.Val562Leu)
c.1651G>C (p.Val551Leu)
n.2685G>C
c.1864G>C (p.Val622Leu)
n.2679G>C
Xg.53248818C>TCA413158385IQSEC2c.2521G>A (p.Val841Met)
c.314G>A
c.2362G>A (p.Val788Met)
c.2332G>A (p.Val778Met)
c.1747G>A (p.Val583Met)
c.2458G>A (p.Val820Met)
c.1684G>A (p.Val562Met)
c.1651G>A (p.Val551Met)
n.2685G>A
c.1864G>A (p.Val622Met)
n.2679G>A
Xg.53248819T>ACA516428860IQSEC2c.2520A>T (p.Gly840=)
c.313A>T
c.2361A>T (p.Gly787=)
c.2331A>T (p.Gly777=)
c.1746A>T (p.Gly582=)
c.2457A>T (p.Gly819=)
c.1683A>T (p.Gly561=)
c.1650A>T (p.Gly550=)
n.2684A>T
c.1863A>T (p.Gly621=)
n.2678A>T
Xg.53248819T>CCA516428862IQSEC2c.2520A>G (p.Gly840=)
c.313A>G
c.2361A>G (p.Gly787=)
c.2331A>G (p.Gly777=)
c.1746A>G (p.Gly582=)
c.2457A>G (p.Gly819=)
c.1683A>G (p.Gly561=)
c.1650A>G (p.Gly550=)
n.2684A>G
c.1863A>G (p.Gly621=)
n.2678A>G
Xg.53248819T>GCA516428861IQSEC2c.2520A>C (p.Gly840=)
c.313A>C
c.2361A>C (p.Gly787=)
c.2331A>C (p.Gly777=)
c.1746A>C (p.Gly582=)
c.2457A>C (p.Gly819=)
c.1683A>C (p.Gly561=)
c.1650A>C (p.Gly550=)
n.2684A>C
c.1863A>C (p.Gly621=)
n.2678A>C
Xg.53248820C>ACA413158390IQSEC2c.2519G>T (p.Gly840Val)
c.312G>T
c.2360G>T (p.Gly787Val)
c.2330G>T (p.Gly777Val)
c.1745G>T (p.Gly582Val)
c.2456G>T (p.Gly819Val)
c.1682G>T (p.Gly561Val)
c.1649G>T (p.Gly550Val)
n.2683G>T
c.1862G>T (p.Gly621Val)
n.2677G>T
Xg.53248820C>GCA413158397IQSEC2c.2519G>C (p.Gly840Ala)
c.312G>C
c.2360G>C (p.Gly787Ala)
c.2330G>C (p.Gly777Ala)
c.1745G>C (p.Gly582Ala)
c.2456G>C (p.Gly819Ala)
c.1682G>C (p.Gly561Ala)
c.1649G>C (p.Gly550Ala)
n.2683G>C
c.1862G>C (p.Gly621Ala)
n.2677G>C
Xg.53248820C>TCA413158393IQSEC2c.2519G>A (p.Gly840Glu)
c.312G>A
c.2360G>A (p.Gly787Glu)
c.2330G>A (p.Gly777Glu)
c.1745G>A (p.Gly582Glu)
c.2456G>A (p.Gly819Glu)
c.1682G>A (p.Gly561Glu)
c.1649G>A (p.Gly550Glu)
n.2683G>A
c.1862G>A (p.Gly621Glu)
n.2677G>A
Xg.53248821C>ACA413158403IQSEC2c.2518G>T (p.Gly840Ter)
c.311G>T
c.2359G>T (p.Gly787Ter)
c.2329G>T (p.Gly777Ter)
c.1744G>T (p.Gly582Ter)
c.2455G>T (p.Gly819Ter)
c.1681G>T (p.Gly561Ter)
c.1648G>T (p.Gly550Ter)
n.2682G>T
c.1861G>T (p.Gly621Ter)
n.2676G>T
Xg.53248821C>GCA413158404IQSEC2c.2518G>C (p.Gly840Arg)
c.311G>C
c.2359G>C (p.Gly787Arg)
c.2329G>C (p.Gly777Arg)
c.1744G>C (p.Gly582Arg)
c.2455G>C (p.Gly819Arg)
c.1681G>C (p.Gly561Arg)
c.1648G>C (p.Gly550Arg)
n.2682G>C
c.1861G>C (p.Gly621Arg)
n.2676G>C
Xg.53248821C>TCA413158405IQSEC2c.2518G>A (p.Gly840Arg)
c.311G>A
c.2359G>A (p.Gly787Arg)
c.2329G>A (p.Gly777Arg)
c.1744G>A (p.Gly582Arg)
c.2455G>A (p.Gly819Arg)
c.1681G>A (p.Gly561Arg)
c.1648G>A (p.Gly550Arg)
n.2682G>A
c.1861G>A (p.Gly621Arg)
n.2676G>A
Xg.53248822C>ACA516428868IQSEC2c.2517G>T (p.Val839=)
c.310G>T
c.2358G>T (p.Val786=)
c.2328G>T (p.Val776=)
c.1743G>T (p.Val581=)
c.2454G>T (p.Val818=)
c.1680G>T (p.Val560=)
c.1647G>T (p.Val549=)
n.2681G>T
c.1860G>T (p.Val620=)
n.2675G>T
Xg.53248822C>GCA516428869IQSEC2c.2517G>C (p.Val839=)
c.310G>C
c.2358G>C (p.Val786=)
c.2328G>C (p.Val776=)
c.1743G>C (p.Val581=)
c.2454G>C (p.Val818=)
c.1680G>C (p.Val560=)
c.1647G>C (p.Val549=)
n.2681G>C
c.1860G>C (p.Val620=)
n.2675G>C
Xg.53248822C>TCA516428870IQSEC2c.2517G>A (p.Val839=)
c.310G>A
c.2358G>A (p.Val786=)
c.2328G>A (p.Val776=)
c.1743G>A (p.Val581=)
c.2454G>A (p.Val818=)
c.1680G>A (p.Val560=)
c.1647G>A (p.Val549=)
n.2681G>A
c.1860G>A (p.Val620=)
n.2675G>A
Xg.53248823A>CCA413158406IQSEC2c.2516T>G (p.Val839Gly)
c.309T>G
c.2357T>G (p.Val786Gly)
c.2327T>G (p.Val776Gly)
c.1742T>G (p.Val581Gly)
c.2453T>G (p.Val818Gly)
c.1679T>G (p.Val560Gly)
c.1646T>G (p.Val549Gly)
n.2680T>G
c.1859T>G (p.Val620Gly)
n.2674T>G
Xg.53248823A>GCA413158407IQSEC2c.2516T>C (p.Val839Ala)
c.309T>C
c.2357T>C (p.Val786Ala)
c.2327T>C (p.Val776Ala)
c.1742T>C (p.Val581Ala)
c.2453T>C (p.Val818Ala)
c.1679T>C (p.Val560Ala)
c.1646T>C (p.Val549Ala)
n.2680T>C
c.1859T>C (p.Val620Ala)
n.2674T>C
Xg.53248823A>TCA413158410IQSEC2c.2516T>A (p.Val839Glu)
c.309T>A
c.2357T>A (p.Val786Glu)
c.2327T>A (p.Val776Glu)
c.1742T>A (p.Val581Glu)
c.2453T>A (p.Val818Glu)
c.1679T>A (p.Val560Glu)
c.1646T>A (p.Val549Glu)
n.2680T>A
c.1859T>A (p.Val620Glu)
n.2674T>A
Xg.53248824C>ACA413158415IQSEC2c.2515G>T (p.Val839Leu)
c.308G>T
c.2356G>T (p.Val786Leu)
c.2326G>T (p.Val776Leu)
c.1741G>T (p.Val581Leu)
c.2452G>T (p.Val818Leu)
c.1678G>T (p.Val560Leu)
c.1645G>T (p.Val549Leu)
n.2679G>T
c.1858G>T (p.Val620Leu)
n.2673G>T
Xg.53248824C=CA2429775081IQSEC2c.2515G= (p.Val839=)
c.308G=
c.2356G= (p.Val786=)
c.2326G= (p.Val776=)
c.1741G= (p.Val581=)
c.2452G= (p.Val818=)
c.1678G= (p.Val560=)
c.1645G= (p.Val549=)
n.2679G=
c.1858G= (p.Val620=)
n.2673G=
Xg.53248824C>GCA10419944IQSEC2c.2515G>C (p.Val839Leu)
c.308G>C
c.2356G>C (p.Val786Leu)
c.2326G>C (p.Val776Leu)
c.1741G>C (p.Val581Leu)
c.2452G>C (p.Val818Leu)
c.1678G>C (p.Val560Leu)
c.1645G>C (p.Val549Leu)
n.2679G>C
c.1858G>C (p.Val620Leu)
n.2673G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248824C>TCA413158416IQSEC2c.2515G>A (p.Val839Met)
c.308G>A
c.2356G>A (p.Val786Met)
c.2326G>A (p.Val776Met)
c.1741G>A (p.Val581Met)
c.2452G>A (p.Val818Met)
c.1678G>A (p.Val560Met)
c.1645G>A (p.Val549Met)
n.2679G>A
c.1858G>A (p.Val620Met)
n.2673G>A
Xg.53248825C>ACA516428875IQSEC2c.2514G>T (p.Pro838=)
c.307G>T
c.2355G>T (p.Pro785=)
c.2325G>T (p.Pro775=)
c.1740G>T (p.Pro580=)
c.2451G>T (p.Pro817=)
c.1677G>T (p.Pro559=)
c.1644G>T (p.Pro548=)
n.2678G>T
c.1857G>T (p.Pro619=)
n.2672G>T
Xg.53248825C=CA2429775082IQSEC2c.2514G= (p.Pro838=)
c.307G=
c.2355G= (p.Pro785=)
c.2325G= (p.Pro775=)
c.1740G= (p.Pro580=)
c.2451G= (p.Pro817=)
c.1677G= (p.Pro559=)
c.1644G= (p.Pro548=)
n.2678G=
c.1857G= (p.Pro619=)
n.2672G=
Xg.53248825C>GCA516428877IQSEC2c.2514G>C (p.Pro838=)
c.307G>C
c.2355G>C (p.Pro785=)
c.2325G>C (p.Pro775=)
c.1740G>C (p.Pro580=)
c.2451G>C (p.Pro817=)
c.1677G>C (p.Pro559=)
c.1644G>C (p.Pro548=)
n.2678G>C
c.1857G>C (p.Pro619=)
n.2672G>C
 gnomAD v4
Xg.53248825C>TCA516428879IQSEC2c.2514G>A (p.Pro838=)
c.307G>A
c.2355G>A (p.Pro785=)
c.2325G>A (p.Pro775=)
c.1740G>A (p.Pro580=)
c.2451G>A (p.Pro817=)
c.1677G>A (p.Pro559=)
c.1644G>A (p.Pro548=)
n.2678G>A
c.1857G>A (p.Pro619=)
n.2672G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248826G>ACA413158423IQSEC2c.2513C>T (p.Pro838Leu)
c.306C>T
c.2354C>T (p.Pro785Leu)
c.2324C>T (p.Pro775Leu)
c.1739C>T (p.Pro580Leu)
c.2450C>T (p.Pro817Leu)
c.1676C>T (p.Pro559Leu)
c.1643C>T (p.Pro548Leu)
n.2677C>T
c.1856C>T (p.Pro619Leu)
n.2671C>T
 dbSNP
Xg.53248826G>CCA413158426IQSEC2c.2513C>G (p.Pro838Arg)
c.306C>G
c.2354C>G (p.Pro785Arg)
c.2324C>G (p.Pro775Arg)
c.1739C>G (p.Pro580Arg)
c.2450C>G (p.Pro817Arg)
c.1676C>G (p.Pro559Arg)
c.1643C>G (p.Pro548Arg)
n.2677C>G
c.1856C>G (p.Pro619Arg)
n.2671C>G
Xg.53248826G>TCA413158419IQSEC2c.2513C>A (p.Pro838Gln)
c.306C>A
c.2354C>A (p.Pro785Gln)
c.2324C>A (p.Pro775Gln)
c.1739C>A (p.Pro580Gln)
c.2450C>A (p.Pro817Gln)
c.1676C>A (p.Pro559Gln)
c.1643C>A (p.Pro548Gln)
n.2677C>A
c.1856C>A (p.Pro619Gln)
n.2671C>A
Xg.53248827G>ACA413158430IQSEC2c.2512C>T (p.Pro838Ser)
c.305C>T
c.2353C>T (p.Pro785Ser)
c.2323C>T (p.Pro775Ser)
c.1738C>T (p.Pro580Ser)
c.2449C>T (p.Pro817Ser)
c.1675C>T (p.Pro559Ser)
c.1642C>T (p.Pro548Ser)
n.2676C>T
c.1855C>T (p.Pro619Ser)
n.2670C>T
Xg.53248827G>CCA413158431IQSEC2c.2512C>G (p.Pro838Ala)
c.305C>G
c.2353C>G (p.Pro785Ala)
c.2323C>G (p.Pro775Ala)
c.1738C>G (p.Pro580Ala)
c.2449C>G (p.Pro817Ala)
c.1675C>G (p.Pro559Ala)
c.1642C>G (p.Pro548Ala)
n.2676C>G
c.1855C>G (p.Pro619Ala)
n.2670C>G
Xg.53248827G>TCA413158434IQSEC2c.2512C>A (p.Pro838Thr)
c.305C>A
c.2353C>A (p.Pro785Thr)
c.2323C>A (p.Pro775Thr)
c.1738C>A (p.Pro580Thr)
c.2449C>A (p.Pro817Thr)
c.1675C>A (p.Pro559Thr)
c.1642C>A (p.Pro548Thr)
n.2676C>A
c.1855C>A (p.Pro619Thr)
n.2670C>A
 dbSNP
Xg.53248831_53248832delCA2697553116IQSEC2c.2511_2512del (p.Pro838GlyfsTer?)
c.304_305del
c.2352_2353del (p.Pro785GlyfsTer?)
c.2322_2323del (p.Pro775GlyfsTer?)
c.1737_1738del (p.Pro580GlyfsTer?)
c.2448_2449del (p.Pro817GlyfsTer?)
c.1674_1675del (p.Pro559GlyfsTer?)
c.1641_1642del (p.Pro548GlyfsTer?)
n.2675_2676del
c.1854_1855del (p.Pro619GlyfsTer?)
n.2669_2670del
 ClinVar
Xg.53248828T>ACA516428882IQSEC2c.2511A>T (p.Thr837=)
c.304A>T
c.2352A>T (p.Thr784=)
c.2322A>T (p.Thr774=)
c.1737A>T (p.Thr579=)
c.2448A>T (p.Thr816=)
c.1674A>T (p.Thr558=)
c.1641A>T (p.Thr547=)
n.2675A>T
c.1854A>T (p.Thr618=)
n.2669A>T
Xg.53248828T>CCA516428883IQSEC2c.2511A>G (p.Thr837=)
c.304A>G
c.2352A>G (p.Thr784=)
c.2322A>G (p.Thr774=)
c.1737A>G (p.Thr579=)
c.2448A>G (p.Thr816=)
c.1674A>G (p.Thr558=)
c.1641A>G (p.Thr547=)
n.2675A>G
c.1854A>G (p.Thr618=)
n.2669A>G
Xg.53248828T>GCA516428881IQSEC2c.2511A>C (p.Thr837=)
c.304A>C
c.2352A>C (p.Thr784=)
c.2322A>C (p.Thr774=)
c.1737A>C (p.Thr579=)
c.2448A>C (p.Thr816=)
c.1674A>C (p.Thr558=)
c.1641A>C (p.Thr547=)
n.2675A>C
c.1854A>C (p.Thr618=)
n.2669A>C
Xg.53248829G>ACA413158441IQSEC2c.2510C>T (p.Thr837Ile)
c.303C>T
c.2351C>T (p.Thr784Ile)
c.2321C>T (p.Thr774Ile)
c.1736C>T (p.Thr579Ile)
c.2447C>T (p.Thr816Ile)
c.1673C>T (p.Thr558Ile)
c.1640C>T (p.Thr547Ile)
n.2674C>T
c.1853C>T (p.Thr618Ile)
n.2668C>T
Xg.53248829G>CCA413158444IQSEC2c.2510C>G (p.Thr837Arg)
c.303C>G
c.2351C>G (p.Thr784Arg)
c.2321C>G (p.Thr774Arg)
c.1736C>G (p.Thr579Arg)
c.2447C>G (p.Thr816Arg)
c.1673C>G (p.Thr558Arg)
c.1640C>G (p.Thr547Arg)
n.2674C>G
c.1853C>G (p.Thr618Arg)
n.2668C>G
Xg.53248829G>TCA413158447IQSEC2c.2510C>A (p.Thr837Lys)
c.303C>A
c.2351C>A (p.Thr784Lys)
c.2321C>A (p.Thr774Lys)
c.1736C>A (p.Thr579Lys)
c.2447C>A (p.Thr816Lys)
c.1673C>A (p.Thr558Lys)
c.1640C>A (p.Thr547Lys)
n.2674C>A
c.1853C>A (p.Thr618Lys)
n.2668C>A
Xg.53248830T>ACA413158458IQSEC2c.2509A>T (p.Thr837Ser)
c.302A>T
c.2350A>T (p.Thr784Ser)
c.2320A>T (p.Thr774Ser)
c.1735A>T (p.Thr579Ser)
c.2446A>T (p.Thr816Ser)
c.1672A>T (p.Thr558Ser)
c.1639A>T (p.Thr547Ser)
n.2673A>T
c.1852A>T (p.Thr618Ser)
n.2667A>T
Xg.53248830T>CCA413158453IQSEC2c.2509A>G (p.Thr837Ala)
c.302A>G
c.2350A>G (p.Thr784Ala)
c.2320A>G (p.Thr774Ala)
c.1735A>G (p.Thr579Ala)
c.2446A>G (p.Thr816Ala)
c.1672A>G (p.Thr558Ala)
c.1639A>G (p.Thr547Ala)
n.2673A>G
c.1852A>G (p.Thr618Ala)
n.2667A>G
Xg.53248830T>GCA413158456IQSEC2c.2509A>C (p.Thr837Pro)
c.302A>C
c.2350A>C (p.Thr784Pro)
c.2320A>C (p.Thr774Pro)
c.1735A>C (p.Thr579Pro)
c.2446A>C (p.Thr816Pro)
c.1672A>C (p.Thr558Pro)
c.1639A>C (p.Thr547Pro)
n.2673A>C
c.1852A>C (p.Thr618Pro)
n.2667A>C
Xg.53248831delCA2738651855IQSEC2c.2508del (p.Asp836GlufsTer20)
c.301del
c.2349del (p.Asp783GlufsTer20)
c.2319del (p.Asp773GlufsTer20)
c.1734del (p.Asp578GlufsTer20)
c.2445del (p.Asp815GlufsTer20)
c.1671del (p.Asp557GlufsTer20)
c.1638del (p.Asp546GlufsTer20)
n.2672del
c.1851del (p.Asp617GlufsTer20)
n.2666del
 dbSNP
Xg.53248831G>ACA516428888IQSEC2c.2508C>T (p.Asp836=)
c.301C>T
c.2349C>T (p.Asp783=)
c.2319C>T (p.Asp773=)
c.1734C>T (p.Asp578=)
c.2445C>T (p.Asp815=)
c.1671C>T (p.Asp557=)
c.1638C>T (p.Asp546=)
n.2672C>T
c.1851C>T (p.Asp617=)
n.2666C>T
Xg.53248831G>CCA413158463IQSEC2c.2508C>G (p.Asp836Glu)
c.301C>G
c.2349C>G (p.Asp783Glu)
c.2319C>G (p.Asp773Glu)
c.1734C>G (p.Asp578Glu)
c.2445C>G (p.Asp815Glu)
c.1671C>G (p.Asp557Glu)
c.1638C>G (p.Asp546Glu)
n.2672C>G
c.1851C>G (p.Asp617Glu)
n.2666C>G
Xg.53248831G>TCA413158469IQSEC2c.2508C>A (p.Asp836Glu)
c.301C>A
c.2349C>A (p.Asp783Glu)
c.2319C>A (p.Asp773Glu)
c.1734C>A (p.Asp578Glu)
c.2445C>A (p.Asp815Glu)
c.1671C>A (p.Asp557Glu)
c.1638C>A (p.Asp546Glu)
n.2672C>A
c.1851C>A (p.Asp617Glu)
n.2666C>A
Xg.53248832T>ACA413158475IQSEC2c.2507A>T (p.Asp836Val)
c.300A>T
c.2348A>T (p.Asp783Val)
c.2318A>T (p.Asp773Val)
c.1733A>T (p.Asp578Val)
c.2444A>T (p.Asp815Val)
c.1670A>T (p.Asp557Val)
c.1637A>T (p.Asp546Val)
n.2671A>T
c.1850A>T (p.Asp617Val)
n.2665A>T
Xg.53248832T>CCA413158477IQSEC2c.2507A>G (p.Asp836Gly)
c.300A>G
c.2348A>G (p.Asp783Gly)
c.2318A>G (p.Asp773Gly)
c.1733A>G (p.Asp578Gly)
c.2444A>G (p.Asp815Gly)
c.1670A>G (p.Asp557Gly)
c.1637A>G (p.Asp546Gly)
n.2671A>G
c.1850A>G (p.Asp617Gly)
n.2665A>G
Xg.53248832T>GCA413158483IQSEC2c.2507A>C (p.Asp836Ala)
c.300A>C
c.2348A>C (p.Asp783Ala)
c.2318A>C (p.Asp773Ala)
c.1733A>C (p.Asp578Ala)
c.2444A>C (p.Asp815Ala)
c.1670A>C (p.Asp557Ala)
c.1637A>C (p.Asp546Ala)
n.2671A>C
c.1850A>C (p.Asp617Ala)
n.2665A>C
Xg.53248833C>ACA413158489IQSEC2c.2506G>T (p.Asp836Tyr)
c.299G>T
c.2347G>T (p.Asp783Tyr)
c.2317G>T (p.Asp773Tyr)
c.1732G>T (p.Asp578Tyr)
c.2443G>T (p.Asp815Tyr)
c.1669G>T (p.Asp557Tyr)
c.1636G>T (p.Asp546Tyr)
n.2670G>T
c.1849G>T (p.Asp617Tyr)
n.2664G>T
Xg.53248833C>GCA413158497IQSEC2c.2506G>C (p.Asp836His)
c.299G>C
c.2347G>C (p.Asp783His)
c.2317G>C (p.Asp773His)
c.1732G>C (p.Asp578His)
c.2443G>C (p.Asp815His)
c.1669G>C (p.Asp557His)
c.1636G>C (p.Asp546His)
n.2670G>C
c.1849G>C (p.Asp617His)
n.2664G>C
Xg.53248833C>TCA413158494IQSEC2c.2506G>A (p.Asp836Asn)
c.299G>A
c.2347G>A (p.Asp783Asn)
c.2317G>A (p.Asp773Asn)
c.1732G>A (p.Asp578Asn)
c.2443G>A (p.Asp815Asn)
c.1669G>A (p.Asp557Asn)
c.1636G>A (p.Asp546Asn)
n.2670G>A
c.1849G>A (p.Asp617Asn)
n.2664G>A
Xg.53248834T>ACA516428893IQSEC2c.2505A>T (p.Ser835=)
c.298A>T
c.2346A>T (p.Ser782=)
c.2316A>T (p.Ser772=)
c.1731A>T (p.Ser577=)
c.2442A>T (p.Ser814=)
c.1668A>T (p.Ser556=)
c.1635A>T (p.Ser545=)
n.2669A>T
c.1848A>T (p.Ser616=)
n.2663A>T
Xg.53248834T>CCA329165721IQSEC2c.2505A>G (p.Ser835=)
c.298A>G
c.2346A>G (p.Ser782=)
c.2316A>G (p.Ser772=)
c.1731A>G (p.Ser577=)
c.2442A>G (p.Ser814=)
c.1668A>G (p.Ser556=)
c.1635A>G (p.Ser545=)
n.2669A>G
c.1848A>G (p.Ser616=)
n.2663A>G
 ClinVar dbSNP
Xg.53248834T>GCA516428894IQSEC2c.2505A>C (p.Ser835=)
c.298A>C
c.2346A>C (p.Ser782=)
c.2316A>C (p.Ser772=)
c.1731A>C (p.Ser577=)
c.2442A>C (p.Ser814=)
c.1668A>C (p.Ser556=)
c.1635A>C (p.Ser545=)
n.2669A>C
c.1848A>C (p.Ser616=)
n.2663A>C
Xg.53248834T=CA2429775083IQSEC2c.2505A= (p.Ser835=)
c.298A=
c.2346A= (p.Ser782=)
c.2316A= (p.Ser772=)
c.1731A= (p.Ser577=)
c.2442A= (p.Ser814=)
c.1668A= (p.Ser556=)
c.1635A= (p.Ser545=)
n.2669A=
c.1848A= (p.Ser616=)
n.2663A=
Xg.53248835G>ACA413158508IQSEC2c.2504C>T (p.Ser835Leu)
c.297C>T
c.2345C>T (p.Ser782Leu)
c.2315C>T (p.Ser772Leu)
c.1730C>T (p.Ser577Leu)
c.2441C>T (p.Ser814Leu)
c.1667C>T (p.Ser556Leu)
c.1634C>T (p.Ser545Leu)
n.2668C>T
c.1847C>T (p.Ser616Leu)
n.2662C>T
Xg.53248835G>CCA413158514IQSEC2c.2504C>G (p.Ser835Ter)
c.297C>G
c.2345C>G (p.Ser782Ter)
c.2315C>G (p.Ser772Ter)
c.1730C>G (p.Ser577Ter)
c.2441C>G (p.Ser814Ter)
c.1667C>G (p.Ser556Ter)
c.1634C>G (p.Ser545Ter)
n.2668C>G
c.1847C>G (p.Ser616Ter)
n.2662C>G
Xg.53248835G>TCA413158516IQSEC2c.2504C>A (p.Ser835Ter)
c.297C>A
c.2345C>A (p.Ser782Ter)
c.2315C>A (p.Ser772Ter)
c.1730C>A (p.Ser577Ter)
c.2441C>A (p.Ser814Ter)
c.1667C>A (p.Ser556Ter)
c.1634C>A (p.Ser545Ter)
n.2668C>A
c.1847C>A (p.Ser616Ter)
n.2662C>A
Xg.53248836A>CCA413158526IQSEC2c.2503T>G (p.Ser835Ala)
c.296T>G
c.2344T>G (p.Ser782Ala)
c.2314T>G (p.Ser772Ala)
c.1729T>G (p.Ser577Ala)
c.2440T>G (p.Ser814Ala)
c.1666T>G (p.Ser556Ala)
c.1633T>G (p.Ser545Ala)
n.2667T>G
c.1846T>G (p.Ser616Ala)
n.2661T>G
Xg.53248836A>GCA413158530IQSEC2c.2503T>C (p.Ser835Pro)
c.296T>C
c.2344T>C (p.Ser782Pro)
c.2314T>C (p.Ser772Pro)
c.1729T>C (p.Ser577Pro)
c.2440T>C (p.Ser814Pro)
c.1666T>C (p.Ser556Pro)
c.1633T>C (p.Ser545Pro)
n.2667T>C
c.1846T>C (p.Ser616Pro)
n.2661T>C
Xg.53248836A>TCA413158532IQSEC2c.2503T>A (p.Ser835Thr)
c.296T>A
c.2344T>A (p.Ser782Thr)
c.2314T>A (p.Ser772Thr)
c.1729T>A (p.Ser577Thr)
c.2440T>A (p.Ser814Thr)
c.1666T>A (p.Ser556Thr)
c.1633T>A (p.Ser545Thr)
n.2667T>A
c.1846T>A (p.Ser616Thr)
n.2661T>A
Xg.53248837C>ACA516428897IQSEC2c.2502G>T (p.Leu834=)
c.295G>T
c.2343G>T (p.Leu781=)
c.2313G>T (p.Leu771=)
c.1728G>T (p.Leu576=)
c.2439G>T (p.Leu813=)
c.1665G>T (p.Leu555=)
c.1632G>T (p.Leu544=)
n.2666G>T
c.1845G>T (p.Leu615=)
n.2660G>T
Xg.53248837C>GCA516428900IQSEC2c.2502G>C (p.Leu834=)
c.295G>C
c.2343G>C (p.Leu781=)
c.2313G>C (p.Leu771=)
c.1728G>C (p.Leu576=)
c.2439G>C (p.Leu813=)
c.1665G>C (p.Leu555=)
c.1632G>C (p.Leu544=)
n.2666G>C
c.1845G>C (p.Leu615=)
n.2660G>C
 gnomAD v4
Xg.53248837C>TCA516428901IQSEC2c.2502G>A (p.Leu834=)
c.295G>A
c.2343G>A (p.Leu781=)
c.2313G>A (p.Leu771=)
c.1728G>A (p.Leu576=)
c.2439G>A (p.Leu813=)
c.1665G>A (p.Leu555=)
c.1632G>A (p.Leu544=)
n.2666G>A
c.1845G>A (p.Leu615=)
n.2660G>A
Xg.53248838A=CA2429775084IQSEC2c.2501T= (p.Leu834=)
c.294T=
c.2342T= (p.Leu781=)
c.2312T= (p.Leu771=)
c.1727T= (p.Leu576=)
c.2438T= (p.Leu813=)
c.1664T= (p.Leu555=)
c.1631T= (p.Leu544=)
n.2665T=
c.1844T= (p.Leu615=)
n.2659T=
Xg.53248838A>CCA413158539IQSEC2c.2501T>G (p.Leu834Arg)
c.294T>G
c.2342T>G (p.Leu781Arg)
c.2312T>G (p.Leu771Arg)
c.1727T>G (p.Leu576Arg)
c.2438T>G (p.Leu813Arg)
c.1664T>G (p.Leu555Arg)
c.1631T>G (p.Leu544Arg)
n.2665T>G
c.1844T>G (p.Leu615Arg)
n.2659T>G
Xg.53248838A>GCA413158544IQSEC2c.2501T>C (p.Leu834Pro)
c.294T>C
c.2342T>C (p.Leu781Pro)
c.2312T>C (p.Leu771Pro)
c.1727T>C (p.Leu576Pro)
c.2438T>C (p.Leu813Pro)
c.1664T>C (p.Leu555Pro)
c.1631T>C (p.Leu544Pro)
n.2665T>C
c.1844T>C (p.Leu615Pro)
n.2659T>C
 ClinVar dbSNP
Xg.53248838A>TCA413158550IQSEC2c.2501T>A (p.Leu834Gln)
c.294T>A
c.2342T>A (p.Leu781Gln)
c.2312T>A (p.Leu771Gln)
c.1727T>A (p.Leu576Gln)
c.2438T>A (p.Leu813Gln)
c.1664T>A (p.Leu555Gln)
c.1631T>A (p.Leu544Gln)
n.2665T>A
c.1844T>A (p.Leu615Gln)
n.2659T>A
Xg.53248839G>ACA516428903IQSEC2c.2500C>T (p.Leu834=)
c.293C>T
c.2341C>T (p.Leu781=)
c.2311C>T (p.Leu771=)
c.1726C>T (p.Leu576=)
c.2437C>T (p.Leu813=)
c.1663C>T (p.Leu555=)
c.1630C>T (p.Leu544=)
n.2664C>T
c.1843C>T (p.Leu615=)
n.2658C>T
 dbSNP
Xg.53248839G>CCA413158551IQSEC2c.2500C>G (p.Leu834Val)
c.293C>G
c.2341C>G (p.Leu781Val)
c.2311C>G (p.Leu771Val)
c.1726C>G (p.Leu576Val)
c.2437C>G (p.Leu813Val)
c.1663C>G (p.Leu555Val)
c.1630C>G (p.Leu544Val)
n.2664C>G
c.1843C>G (p.Leu615Val)
n.2658C>G
Xg.53248839G=CA2429775085IQSEC2c.2500C= (p.Leu834=)
c.293C=
c.2341C= (p.Leu781=)
c.2311C= (p.Leu771=)
c.1726C= (p.Leu576=)
c.2437C= (p.Leu813=)
c.1663C= (p.Leu555=)
c.1630C= (p.Leu544=)
n.2664C=
c.1843C= (p.Leu615=)
n.2658C=
Xg.53248839G>TCA413158553IQSEC2c.2500C>A (p.Leu834Met)
c.293C>A
c.2341C>A (p.Leu781Met)
c.2311C>A (p.Leu771Met)
c.1726C>A (p.Leu576Met)
c.2437C>A (p.Leu813Met)
c.1663C>A (p.Leu555Met)
c.1630C>A (p.Leu544Met)
n.2664C>A
c.1843C>A (p.Leu615Met)
n.2658C>A
Xg.53248840G>ACA516428904IQSEC2c.2499C>T (p.Phe833=)
c.292C>T
c.2340C>T (p.Phe780=)
c.2310C>T (p.Phe770=)
c.1725C>T (p.Phe575=)
c.2436C>T (p.Phe812=)
c.1662C>T (p.Phe554=)
c.1629C>T (p.Phe543=)
n.2663C>T
c.1842C>T (p.Phe614=)
n.2657C>T
Xg.53248840G>CCA413158558IQSEC2c.2499C>G (p.Phe833Leu)
c.292C>G
c.2340C>G (p.Phe780Leu)
c.2310C>G (p.Phe770Leu)
c.1725C>G (p.Phe575Leu)
c.2436C>G (p.Phe812Leu)
c.1662C>G (p.Phe554Leu)
c.1629C>G (p.Phe543Leu)
n.2663C>G
c.1842C>G (p.Phe614Leu)
n.2657C>G
Xg.53248840G>TCA413158560IQSEC2c.2499C>A (p.Phe833Leu)
c.292C>A
c.2340C>A (p.Phe780Leu)
c.2310C>A (p.Phe770Leu)
c.1725C>A (p.Phe575Leu)
c.2436C>A (p.Phe812Leu)
c.1662C>A (p.Phe554Leu)
c.1629C>A (p.Phe543Leu)
n.2663C>A
c.1842C>A (p.Phe614Leu)
n.2657C>A
Xg.53248841A>CCA413158566IQSEC2c.2498T>G (p.Phe833Cys)
c.291T>G
c.2339T>G (p.Phe780Cys)
c.2309T>G (p.Phe770Cys)
c.1724T>G (p.Phe575Cys)
c.2435T>G (p.Phe812Cys)
c.1661T>G (p.Phe554Cys)
c.1628T>G (p.Phe543Cys)
n.2662T>G
c.1841T>G (p.Phe614Cys)
n.2656T>G
Xg.53248841A>GCA413158572IQSEC2c.2498T>C (p.Phe833Ser)
c.291T>C
c.2339T>C (p.Phe780Ser)
c.2309T>C (p.Phe770Ser)
c.1724T>C (p.Phe575Ser)
c.2435T>C (p.Phe812Ser)
c.1661T>C (p.Phe554Ser)
c.1628T>C (p.Phe543Ser)
n.2662T>C
c.1841T>C (p.Phe614Ser)
n.2656T>C
Xg.53248841A>TCA413158569IQSEC2c.2498T>A (p.Phe833Tyr)
c.291T>A
c.2339T>A (p.Phe780Tyr)
c.2309T>A (p.Phe770Tyr)
c.1724T>A (p.Phe575Tyr)
c.2435T>A (p.Phe812Tyr)
c.1661T>A (p.Phe554Tyr)
c.1628T>A (p.Phe543Tyr)
n.2662T>A
c.1841T>A (p.Phe614Tyr)
n.2656T>A
Xg.53248842A>CCA413158577IQSEC2c.2497T>G (p.Phe833Val)
c.290T>G
c.2338T>G (p.Phe780Val)
c.2308T>G (p.Phe770Val)
c.1723T>G (p.Phe575Val)
c.2434T>G (p.Phe812Val)
c.1660T>G (p.Phe554Val)
c.1627T>G (p.Phe543Val)
n.2661T>G
c.1840T>G (p.Phe614Val)
n.2655T>G
Xg.53248842A>GCA413158583IQSEC2c.2497T>C (p.Phe833Leu)
c.290T>C
c.2338T>C (p.Phe780Leu)
c.2308T>C (p.Phe770Leu)
c.1723T>C (p.Phe575Leu)
c.2434T>C (p.Phe812Leu)
c.1660T>C (p.Phe554Leu)
c.1627T>C (p.Phe543Leu)
n.2661T>C
c.1840T>C (p.Phe614Leu)
n.2655T>C
Xg.53248842A>TCA413158581IQSEC2c.2497T>A (p.Phe833Ile)
c.290T>A
c.2338T>A (p.Phe780Ile)
c.2308T>A (p.Phe770Ile)
c.1723T>A (p.Phe575Ile)
c.2434T>A (p.Phe812Ile)
c.1660T>A (p.Phe554Ile)
c.1627T>A (p.Phe543Ile)
n.2661T>A
c.1840T>A (p.Phe614Ile)
n.2655T>A
Xg.53248843G>ACA516428908IQSEC2c.2496C>T (p.Gly832=)
c.289C>T
c.2337C>T (p.Gly779=)
c.2307C>T (p.Gly769=)
c.1722C>T (p.Gly574=)
c.2433C>T (p.Gly811=)
c.1659C>T (p.Gly553=)
c.1626C>T (p.Gly542=)
n.2660C>T
c.1839C>T (p.Gly613=)
n.2654C>T
Xg.53248843G>CCA516428910IQSEC2c.2496C>G (p.Gly832=)
c.289C>G
c.2337C>G (p.Gly779=)
c.2307C>G (p.Gly769=)
c.1722C>G (p.Gly574=)
c.2433C>G (p.Gly811=)
c.1659C>G (p.Gly553=)
c.1626C>G (p.Gly542=)
n.2660C>G
c.1839C>G (p.Gly613=)
n.2654C>G
Xg.53248843G>TCA516428911IQSEC2c.2496C>A (p.Gly832=)
c.289C>A
c.2337C>A (p.Gly779=)
c.2307C>A (p.Gly769=)
c.1722C>A (p.Gly574=)
c.2433C>A (p.Gly811=)
c.1659C>A (p.Gly553=)
c.1626C>A (p.Gly542=)
n.2660C>A
c.1839C>A (p.Gly613=)
n.2654C>A
Xg.53248843_53248844delCA2499226786IQSEC2c.2495_2496del (p.Gly832ValfsTer?)
c.288_289del
c.2336_2337del (p.Gly779ValfsTer?)
c.2306_2307del (p.Gly769ValfsTer?)
c.1721_1722del (p.Gly574ValfsTer?)
c.2432_2433del (p.Gly811ValfsTer?)
c.1658_1659del (p.Gly553ValfsTer?)
c.1625_1626del (p.Gly542ValfsTer?)
n.2659_2660del
c.1838_1839del (p.Gly613ValfsTer?)
n.2653_2654del
 ClinVar dbSNP
Xg.53248844C>ACA413158587IQSEC2c.2495G>T (p.Gly832Val)
c.288G>T
c.2336G>T (p.Gly779Val)
c.2306G>T (p.Gly769Val)
c.1721G>T (p.Gly574Val)
c.2432G>T (p.Gly811Val)
c.1658G>T (p.Gly553Val)
c.1625G>T (p.Gly542Val)
n.2659G>T
c.1838G>T (p.Gly613Val)
n.2653G>T
Xg.53248844C>GCA413158588IQSEC2c.2495G>C (p.Gly832Ala)
c.288G>C
c.2336G>C (p.Gly779Ala)
c.2306G>C (p.Gly769Ala)
c.1721G>C (p.Gly574Ala)
c.2432G>C (p.Gly811Ala)
c.1658G>C (p.Gly553Ala)
c.1625G>C (p.Gly542Ala)
n.2659G>C
c.1838G>C (p.Gly613Ala)
n.2653G>C
Xg.53248844C>TCA413158591IQSEC2c.2495G>A (p.Gly832Asp)
c.288G>A
c.2336G>A (p.Gly779Asp)
c.2306G>A (p.Gly769Asp)
c.1721G>A (p.Gly574Asp)
c.2432G>A (p.Gly811Asp)
c.1658G>A (p.Gly553Asp)
c.1625G>A (p.Gly542Asp)
n.2659G>A
c.1838G>A (p.Gly613Asp)
n.2653G>A
Xg.53248845C>ACA413158608IQSEC2c.2494G>T (p.Gly832Cys)
c.287G>T
c.2335G>T (p.Gly779Cys)
c.2305G>T (p.Gly769Cys)
c.1720G>T (p.Gly574Cys)
c.2431G>T (p.Gly811Cys)
c.1657G>T (p.Gly553Cys)
c.1624G>T (p.Gly542Cys)
n.2658G>T
c.1837G>T (p.Gly613Cys)
n.2652G>T
Xg.53248845C=CA2429775086IQSEC2c.2494G= (p.Gly832=)
c.287G=
c.2335G= (p.Gly779=)
c.2305G= (p.Gly769=)
c.1720G= (p.Gly574=)
c.2431G= (p.Gly811=)
c.1657G= (p.Gly553=)
c.1624G= (p.Gly542=)
n.2658G=
c.1837G= (p.Gly613=)
n.2652G=
Xg.53248845C>GCA413158610IQSEC2c.2494G>C (p.Gly832Arg)
c.287G>C
c.2335G>C (p.Gly779Arg)
c.2305G>C (p.Gly769Arg)
c.1720G>C (p.Gly574Arg)
c.2431G>C (p.Gly811Arg)
c.1657G>C (p.Gly553Arg)
c.1624G>C (p.Gly542Arg)
n.2658G>C
c.1837G>C (p.Gly613Arg)
n.2652G>C
Xg.53248845C>TCA413158615IQSEC2c.2494G>A (p.Gly832Ser)
c.287G>A
c.2335G>A (p.Gly779Ser)
c.2305G>A (p.Gly769Ser)
c.1720G>A (p.Gly574Ser)
c.2431G>A (p.Gly811Ser)
c.1657G>A (p.Gly553Ser)
c.1624G>A (p.Gly542Ser)
n.2658G>A
c.1837G>A (p.Gly613Ser)
n.2652G>A
 dbSNP gnomAD v4
Xg.53248846C>ACA516428912IQSEC2c.2493G>T (p.Arg831=)
c.286G>T
c.2334G>T (p.Arg778=)
c.2304G>T (p.Arg768=)
c.1719G>T (p.Arg573=)
c.2430G>T (p.Arg810=)
c.1656G>T (p.Arg552=)
c.1623G>T (p.Arg541=)
n.2657G>T
c.1836G>T (p.Arg612=)
n.2651G>T
Xg.53248846C=CA2429775087IQSEC2c.2493G= (p.Arg831=)
c.286G=
c.2334G= (p.Arg778=)
c.2304G= (p.Arg768=)
c.1719G= (p.Arg573=)
c.2430G= (p.Arg810=)
c.1656G= (p.Arg552=)
c.1623G= (p.Arg541=)
n.2657G=
c.1836G= (p.Arg612=)
n.2651G=
Xg.53248846C>GCA516428913IQSEC2c.2493G>C (p.Arg831=)
c.286G>C
c.2334G>C (p.Arg778=)
c.2304G>C (p.Arg768=)
c.1719G>C (p.Arg573=)
c.2430G>C (p.Arg810=)
c.1656G>C (p.Arg552=)
c.1623G>C (p.Arg541=)
n.2657G>C
c.1836G>C (p.Arg612=)
n.2651G>C
Xg.53248846C>TCA10419945IQSEC2c.2493G>A (p.Arg831=)
c.286G>A
c.2334G>A (p.Arg778=)
c.2304G>A (p.Arg768=)
c.1719G>A (p.Arg573=)
c.2430G>A (p.Arg810=)
c.1656G>A (p.Arg552=)
c.1623G>A (p.Arg541=)
n.2657G>A
c.1836G>A (p.Arg612=)
n.2651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248847C>ACA413158622IQSEC2c.2492G>T (p.Arg831Leu)
c.285G>T
c.2333G>T (p.Arg778Leu)
c.2303G>T (p.Arg768Leu)
c.1718G>T (p.Arg573Leu)
c.2429G>T (p.Arg810Leu)
c.1655G>T (p.Arg552Leu)
c.1622G>T (p.Arg541Leu)
n.2656G>T
c.1835G>T (p.Arg612Leu)
n.2650G>T
 gnomAD v4
Xg.53248847C=CA2429775088IQSEC2c.2492G= (p.Arg831=)
c.285G=
c.2333G= (p.Arg778=)
c.2303G= (p.Arg768=)
c.1718G= (p.Arg573=)
c.2429G= (p.Arg810=)
c.1655G= (p.Arg552=)
c.1622G= (p.Arg541=)
n.2656G=
c.1835G= (p.Arg612=)
n.2650G=
Xg.53248847C>GCA413158625IQSEC2c.2492G>C (p.Arg831Pro)
c.285G>C
c.2333G>C (p.Arg778Pro)
c.2303G>C (p.Arg768Pro)
c.1718G>C (p.Arg573Pro)
c.2429G>C (p.Arg810Pro)
c.1655G>C (p.Arg552Pro)
c.1622G>C (p.Arg541Pro)
n.2656G>C
c.1835G>C (p.Arg612Pro)
n.2650G>C
Xg.53248847C>TCA10419946IQSEC2c.2492G>A (p.Arg831Gln)
c.285G>A
c.2333G>A (p.Arg778Gln)
c.2303G>A (p.Arg768Gln)
c.1718G>A (p.Arg573Gln)
c.2429G>A (p.Arg810Gln)
c.1655G>A (p.Arg552Gln)
c.1622G>A (p.Arg541Gln)
n.2656G>A
c.1835G>A (p.Arg612Gln)
n.2650G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248848G>ACA413158632IQSEC2c.2491C>T (p.Arg831Trp)
c.284C>T
c.2332C>T (p.Arg778Trp)
c.2302C>T (p.Arg768Trp)
c.1717C>T (p.Arg573Trp)
c.2428C>T (p.Arg810Trp)
c.1654C>T (p.Arg552Trp)
c.1621C>T (p.Arg541Trp)
n.2655C>T
c.1834C>T (p.Arg612Trp)
n.2649C>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248848G>CCA413158635IQSEC2c.2491C>G (p.Arg831Gly)
c.284C>G
c.2332C>G (p.Arg778Gly)
c.2302C>G (p.Arg768Gly)
c.1717C>G (p.Arg573Gly)
c.2428C>G (p.Arg810Gly)
c.1654C>G (p.Arg552Gly)
c.1621C>G (p.Arg541Gly)
n.2655C>G
c.1834C>G (p.Arg612Gly)
n.2649C>G
Xg.53248848G>TCA516428915IQSEC2c.2491C>A (p.Arg831=)
c.284C>A
c.2332C>A (p.Arg778=)
c.2302C>A (p.Arg768=)
c.1717C>A (p.Arg573=)
c.2428C>A (p.Arg810=)
c.1654C>A (p.Arg552=)
c.1621C>A (p.Arg541=)
n.2655C>A
c.1834C>A (p.Arg612=)
n.2649C>A
Xg.53248849_53248864delCA2695233926IQSEC2c.2476_2491del (p.Gln826GlyfsTer25)
c.269_284del
c.2317_2332del (p.Gln773GlyfsTer25)
c.2287_2302del (p.Gln763GlyfsTer25)
c.1702_1717del (p.Gln568GlyfsTer25)
c.2413_2428del (p.Gln805GlyfsTer25)
c.1639_1654del (p.Gln547GlyfsTer25)
c.1606_1621del (p.Gln536GlyfsTer25)
n.2640_2655del
c.1819_1834del (p.Gln607GlyfsTer25)
n.2634_2649del
Xg.53248849C>ACA413158642IQSEC2c.2490G>T (p.Glu830Asp)
c.283G>T
c.2331G>T (p.Glu777Asp)
c.2301G>T (p.Glu767Asp)
c.1716G>T (p.Glu572Asp)
c.2427G>T (p.Glu809Asp)
c.1653G>T (p.Glu551Asp)
c.1620G>T (p.Glu540Asp)
n.2654G>T
c.1833G>T (p.Glu611Asp)
n.2648G>T
Xg.53248849C>GCA413158639IQSEC2c.2490G>C (p.Glu830Asp)
c.283G>C
c.2331G>C (p.Glu777Asp)
c.2301G>C (p.Glu767Asp)
c.1716G>C (p.Glu572Asp)
c.2427G>C (p.Glu809Asp)
c.1653G>C (p.Glu551Asp)
c.1620G>C (p.Glu540Asp)
n.2654G>C
c.1833G>C (p.Glu611Asp)
n.2648G>C
Xg.53248849C>TCA516428916IQSEC2c.2490G>A (p.Glu830=)
c.283G>A
c.2331G>A (p.Glu777=)
c.2301G>A (p.Glu767=)
c.1716G>A (p.Glu572=)
c.2427G>A (p.Glu809=)
c.1653G>A (p.Glu551=)
c.1620G>A (p.Glu540=)
n.2654G>A
c.1833G>A (p.Glu611=)
n.2648G>A
Xg.53248850T>ACA413158646IQSEC2c.2489A>T (p.Glu830Val)
c.282A>T
c.2330A>T (p.Glu777Val)
c.2300A>T (p.Glu767Val)
c.1715A>T (p.Glu572Val)
c.2426A>T (p.Glu809Val)
c.1652A>T (p.Glu551Val)
c.1619A>T (p.Glu540Val)
n.2653A>T
c.1832A>T (p.Glu611Val)
n.2647A>T
Xg.53248850T>CCA413158649IQSEC2c.2489A>G (p.Glu830Gly)
c.282A>G
c.2330A>G (p.Glu777Gly)
c.2300A>G (p.Glu767Gly)
c.1715A>G (p.Glu572Gly)
c.2426A>G (p.Glu809Gly)
c.1652A>G (p.Glu551Gly)
c.1619A>G (p.Glu540Gly)
n.2653A>G
c.1832A>G (p.Glu611Gly)
n.2647A>G
Xg.53248850T>GCA413158652IQSEC2c.2489A>C (p.Glu830Ala)
c.282A>C
c.2330A>C (p.Glu777Ala)
c.2300A>C (p.Glu767Ala)
c.1715A>C (p.Glu572Ala)
c.2426A>C (p.Glu809Ala)
c.1652A>C (p.Glu551Ala)
c.1619A>C (p.Glu540Ala)
n.2653A>C
c.1832A>C (p.Glu611Ala)
n.2647A>C
Xg.53248851C>ACA10603499IQSEC2c.2488G>T (p.Glu830Ter)
c.281G>T
c.2329G>T (p.Glu777Ter)
c.2299G>T (p.Glu767Ter)
c.1714G>T (p.Glu572Ter)
c.2425G>T (p.Glu809Ter)
c.1651G>T (p.Glu551Ter)
c.1618G>T (p.Glu540Ter)
n.2652G>T
c.1831G>T (p.Glu611Ter)
n.2646G>T
 ClinVar dbSNP
Xg.53248851C=CA2429775089IQSEC2c.2488G= (p.Glu830=)
c.281G=
c.2329G= (p.Glu777=)
c.2299G= (p.Glu767=)
c.1714G= (p.Glu572=)
c.2425G= (p.Glu809=)
c.1651G= (p.Glu551=)
c.1618G= (p.Glu540=)
n.2652G=
c.1831G= (p.Glu611=)
n.2646G=
Xg.53248851C>GCA413158666IQSEC2c.2488G>C (p.Glu830Gln)
c.281G>C
c.2329G>C (p.Glu777Gln)
c.2299G>C (p.Glu767Gln)
c.1714G>C (p.Glu572Gln)
c.2425G>C (p.Glu809Gln)
c.1651G>C (p.Glu551Gln)
c.1618G>C (p.Glu540Gln)
n.2652G>C
c.1831G>C (p.Glu611Gln)
n.2646G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53248851C>TCA10419947IQSEC2c.2488G>A (p.Glu830Lys)
c.281G>A
c.2329G>A (p.Glu777Lys)
c.2299G>A (p.Glu767Lys)
c.1714G>A (p.Glu572Lys)
c.2425G>A (p.Glu809Lys)
c.1651G>A (p.Glu551Lys)
c.1618G>A (p.Glu540Lys)
n.2652G>A
c.1831G>A (p.Glu611Lys)
n.2646G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248852G>ACA10419948IQSEC2c.2487C>T (p.Ile829=)
c.280C>T
c.2328C>T (p.Ile776=)
c.2298C>T (p.Ile766=)
c.1713C>T (p.Ile571=)
c.2424C>T (p.Ile808=)
c.1650C>T (p.Ile550=)
c.1617C>T (p.Ile539=)
n.2651C>T
c.1830C>T (p.Ile610=)
n.2645C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248852G>CCA413158677IQSEC2c.2487C>G (p.Ile829Met)
c.280C>G
c.2328C>G (p.Ile776Met)
c.2298C>G (p.Ile766Met)
c.1713C>G (p.Ile571Met)
c.2424C>G (p.Ile808Met)
c.1650C>G (p.Ile550Met)
c.1617C>G (p.Ile539Met)
n.2651C>G
c.1830C>G (p.Ile610Met)
n.2645C>G
 gnomAD v4
Xg.53248852G=CA2429775090IQSEC2c.2487C= (p.Ile829=)
c.280C=
c.2328C= (p.Ile776=)
c.2298C= (p.Ile766=)
c.1713C= (p.Ile571=)
c.2424C= (p.Ile808=)
c.1650C= (p.Ile550=)
c.1617C= (p.Ile539=)
n.2651C=
c.1830C= (p.Ile610=)
n.2645C=
Xg.53248852G>TCA516428921IQSEC2c.2487C>A (p.Ile829=)
c.280C>A
c.2328C>A (p.Ile776=)
c.2298C>A (p.Ile766=)
c.1713C>A (p.Ile571=)
c.2424C>A (p.Ile808=)
c.1650C>A (p.Ile550=)
c.1617C>A (p.Ile539=)
n.2651C>A
c.1830C>A (p.Ile610=)
n.2645C>A
Xg.53248853A>CCA413158699IQSEC2c.2486T>G (p.Ile829Ser)
c.279T>G
c.2327T>G (p.Ile776Ser)
c.2297T>G (p.Ile766Ser)
c.1712T>G (p.Ile571Ser)
c.2423T>G (p.Ile808Ser)
c.1649T>G (p.Ile550Ser)
c.1616T>G (p.Ile539Ser)
n.2650T>G
c.1829T>G (p.Ile610Ser)
n.2644T>G
Xg.53248853A>GCA413158716IQSEC2c.2486T>C (p.Ile829Thr)
c.279T>C
c.2327T>C (p.Ile776Thr)
c.2297T>C (p.Ile766Thr)
c.1712T>C (p.Ile571Thr)
c.2423T>C (p.Ile808Thr)
c.1649T>C (p.Ile550Thr)
c.1616T>C (p.Ile539Thr)
n.2650T>C
c.1829T>C (p.Ile610Thr)
n.2644T>C
Xg.53248853A>TCA413158720IQSEC2c.2486T>A (p.Ile829Asn)
c.279T>A
c.2327T>A (p.Ile776Asn)
c.2297T>A (p.Ile766Asn)
c.1712T>A (p.Ile571Asn)
c.2423T>A (p.Ile808Asn)
c.1649T>A (p.Ile550Asn)
c.1616T>A (p.Ile539Asn)
n.2650T>A
c.1829T>A (p.Ile610Asn)
n.2644T>A
Xg.53248854T>ACA413158734IQSEC2c.2485A>T (p.Ile829Phe)
c.278A>T
c.2326A>T (p.Ile776Phe)
c.2296A>T (p.Ile766Phe)
c.1711A>T (p.Ile571Phe)
c.2422A>T (p.Ile808Phe)
c.1648A>T (p.Ile550Phe)
c.1615A>T (p.Ile539Phe)
n.2649A>T
c.1828A>T (p.Ile610Phe)
n.2643A>T
Xg.53248854T>CCA413158730IQSEC2c.2485A>G (p.Ile829Val)
c.278A>G
c.2326A>G (p.Ile776Val)
c.2296A>G (p.Ile766Val)
c.1711A>G (p.Ile571Val)
c.2422A>G (p.Ile808Val)
c.1648A>G (p.Ile550Val)
c.1615A>G (p.Ile539Val)
n.2649A>G
c.1828A>G (p.Ile610Val)
n.2643A>G
Xg.53248854T>GCA413158726IQSEC2c.2485A>C (p.Ile829Leu)
c.278A>C
c.2326A>C (p.Ile776Leu)
c.2296A>C (p.Ile766Leu)
c.1711A>C (p.Ile571Leu)
c.2422A>C (p.Ile808Leu)
c.1648A>C (p.Ile550Leu)
c.1615A>C (p.Ile539Leu)
n.2649A>C
c.1828A>C (p.Ile610Leu)
n.2643A>C
Xg.53248855C>ACA516428923IQSEC2c.2484G>T (p.Leu828=)
c.277G>T
c.2325G>T (p.Leu775=)
c.2295G>T (p.Leu765=)
c.1710G>T (p.Leu570=)
c.2421G>T (p.Leu807=)
c.1647G>T (p.Leu549=)
c.1614G>T (p.Leu538=)
n.2648G>T
c.1827G>T (p.Leu609=)
n.2642G>T
Xg.53248855C>GCA516428925IQSEC2c.2484G>C (p.Leu828=)
c.277G>C
c.2325G>C (p.Leu775=)
c.2295G>C (p.Leu765=)
c.1710G>C (p.Leu570=)
c.2421G>C (p.Leu807=)
c.1647G>C (p.Leu549=)
c.1614G>C (p.Leu538=)
n.2648G>C
c.1827G>C (p.Leu609=)
n.2642G>C
Xg.53248855C>TCA516428926IQSEC2c.2484G>A (p.Leu828=)
c.277G>A
c.2325G>A (p.Leu775=)
c.2295G>A (p.Leu765=)
c.1710G>A (p.Leu570=)
c.2421G>A (p.Leu807=)
c.1647G>A (p.Leu549=)
c.1614G>A (p.Leu538=)
n.2648G>A
c.1827G>A (p.Leu609=)
n.2642G>A
 COSMIC COSMIC COSMIC
Xg.53248856A>CCA413158740IQSEC2c.2483T>G (p.Leu828Arg)
c.276T>G
c.2324T>G (p.Leu775Arg)
c.2294T>G (p.Leu765Arg)
c.1709T>G (p.Leu570Arg)
c.2420T>G (p.Leu807Arg)
c.1646T>G (p.Leu549Arg)
c.1613T>G (p.Leu538Arg)
n.2647T>G
c.1826T>G (p.Leu609Arg)
n.2641T>G
Xg.53248856A>GCA413158743IQSEC2c.2483T>C (p.Leu828Pro)
c.276T>C
c.2324T>C (p.Leu775Pro)
c.2294T>C (p.Leu765Pro)
c.1709T>C (p.Leu570Pro)
c.2420T>C (p.Leu807Pro)
c.1646T>C (p.Leu549Pro)
c.1613T>C (p.Leu538Pro)
n.2647T>C
c.1826T>C (p.Leu609Pro)
n.2641T>C
Xg.53248856A>TCA413158747IQSEC2c.2483T>A (p.Leu828Gln)
c.276T>A
c.2324T>A (p.Leu775Gln)
c.2294T>A (p.Leu765Gln)
c.1709T>A (p.Leu570Gln)
c.2420T>A (p.Leu807Gln)
c.1646T>A (p.Leu549Gln)
c.1613T>A (p.Leu538Gln)
n.2647T>A
c.1826T>A (p.Leu609Gln)
n.2641T>A
Xg.53248857G>ACA516428927IQSEC2c.2482C>T (p.Leu828=)
c.275C>T
c.2323C>T (p.Leu775=)
c.2293C>T (p.Leu765=)
c.1708C>T (p.Leu570=)
c.2419C>T (p.Leu807=)
c.1645C>T (p.Leu549=)
c.1612C>T (p.Leu538=)
n.2646C>T
c.1825C>T (p.Leu609=)
n.2640C>T
 ClinVar dbSNP gnomAD v4
Xg.53248857G>CCA413158751IQSEC2c.2482C>G (p.Leu828Val)
c.275C>G
c.2323C>G (p.Leu775Val)
c.2293C>G (p.Leu765Val)
c.1708C>G (p.Leu570Val)
c.2419C>G (p.Leu807Val)
c.1645C>G (p.Leu549Val)
c.1612C>G (p.Leu538Val)
n.2646C>G
c.1825C>G (p.Leu609Val)
n.2640C>G
 ClinVar
Xg.53248857G=CA2429775091IQSEC2c.2482C= (p.Leu828=)
c.275C=
c.2323C= (p.Leu775=)
c.2293C= (p.Leu765=)
c.1708C= (p.Leu570=)
c.2419C= (p.Leu807=)
c.1645C= (p.Leu549=)
c.1612C= (p.Leu538=)
n.2646C=
c.1825C= (p.Leu609=)
n.2640C=
Xg.53248857G>TCA413158754IQSEC2c.2482C>A (p.Leu828Met)
c.275C>A
c.2323C>A (p.Leu775Met)
c.2293C>A (p.Leu765Met)
c.1708C>A (p.Leu570Met)
c.2419C>A (p.Leu807Met)
c.1645C>A (p.Leu549Met)
c.1612C>A (p.Leu538Met)
n.2646C>A
c.1825C>A (p.Leu609Met)
n.2640C>A
Xg.53248858A=CA2429775092IQSEC2c.2481T= (p.Tyr827=)
c.274T=
c.2322T= (p.Tyr774=)
c.2292T= (p.Tyr764=)
c.1707T= (p.Tyr569=)
c.2418T= (p.Tyr806=)
c.1644T= (p.Tyr548=)
c.1611T= (p.Tyr537=)
n.2645T=
c.1824T= (p.Tyr608=)
n.2639T=
Xg.53248858A>CCA413158770IQSEC2c.2481T>G (p.Tyr827Ter)
c.274T>G
c.2322T>G (p.Tyr774Ter)
c.2292T>G (p.Tyr764Ter)
c.1707T>G (p.Tyr569Ter)
c.2418T>G (p.Tyr806Ter)
c.1644T>G (p.Tyr548Ter)
c.1611T>G (p.Tyr537Ter)
n.2645T>G
c.1824T>G (p.Tyr608Ter)
n.2639T>G
Xg.53248858A>GCA10419949IQSEC2c.2481T>C (p.Tyr827=)
c.274T>C
c.2322T>C (p.Tyr774=)
c.2292T>C (p.Tyr764=)
c.1707T>C (p.Tyr569=)
c.2418T>C (p.Tyr806=)
c.1644T>C (p.Tyr548=)
c.1611T>C (p.Tyr537=)
n.2645T>C
c.1824T>C (p.Tyr608=)
n.2639T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248858A>TCA413158763IQSEC2c.2481T>A (p.Tyr827Ter)
c.274T>A
c.2322T>A (p.Tyr774Ter)
c.2292T>A (p.Tyr764Ter)
c.1707T>A (p.Tyr569Ter)
c.2418T>A (p.Tyr806Ter)
c.1644T>A (p.Tyr548Ter)
c.1611T>A (p.Tyr537Ter)
n.2645T>A
c.1824T>A (p.Tyr608Ter)
n.2639T>A
Xg.53248859T>ACA413158776IQSEC2c.2480A>T (p.Tyr827Phe)
c.273A>T
c.2321A>T (p.Tyr774Phe)
c.2291A>T (p.Tyr764Phe)
c.1706A>T (p.Tyr569Phe)
c.2417A>T (p.Tyr806Phe)
c.1643A>T (p.Tyr548Phe)
c.1610A>T (p.Tyr537Phe)
n.2644A>T
c.1823A>T (p.Tyr608Phe)
n.2638A>T
Xg.53248859T>CCA413158780IQSEC2c.2480A>G (p.Tyr827Cys)
c.273A>G
c.2321A>G (p.Tyr774Cys)
c.2291A>G (p.Tyr764Cys)
c.1706A>G (p.Tyr569Cys)
c.2417A>G (p.Tyr806Cys)
c.1643A>G (p.Tyr548Cys)
c.1610A>G (p.Tyr537Cys)
n.2644A>G
c.1823A>G (p.Tyr608Cys)
n.2638A>G
Xg.53248859T>GCA413158781IQSEC2c.2480A>C (p.Tyr827Ser)
c.273A>C
c.2321A>C (p.Tyr774Ser)
c.2291A>C (p.Tyr764Ser)
c.1706A>C (p.Tyr569Ser)
c.2417A>C (p.Tyr806Ser)
c.1643A>C (p.Tyr548Ser)
c.1610A>C (p.Tyr537Ser)
n.2644A>C
c.1823A>C (p.Tyr608Ser)
n.2638A>C
Xg.53248860A>CCA413158795IQSEC2c.2479T>G (p.Tyr827Asp)
c.272T>G
c.2320T>G (p.Tyr774Asp)
c.2290T>G (p.Tyr764Asp)
c.1705T>G (p.Tyr569Asp)
c.2416T>G (p.Tyr806Asp)
c.1642T>G (p.Tyr548Asp)
c.1609T>G (p.Tyr537Asp)
n.2643T>G
c.1822T>G (p.Tyr608Asp)
n.2637T>G
Xg.53248860A>GCA413158804IQSEC2c.2479T>C (p.Tyr827His)
c.272T>C
c.2320T>C (p.Tyr774His)
c.2290T>C (p.Tyr764His)
c.1705T>C (p.Tyr569His)
c.2416T>C (p.Tyr806His)
c.1642T>C (p.Tyr548His)
c.1609T>C (p.Tyr537His)
n.2643T>C
c.1822T>C (p.Tyr608His)
n.2637T>C
Xg.53248860A>TCA413158807IQSEC2c.2479T>A (p.Tyr827Asn)
c.272T>A
c.2320T>A (p.Tyr774Asn)
c.2290T>A (p.Tyr764Asn)
c.1705T>A (p.Tyr569Asn)
c.2416T>A (p.Tyr806Asn)
c.1642T>A (p.Tyr548Asn)
c.1609T>A (p.Tyr537Asn)
n.2643T>A
c.1822T>A (p.Tyr608Asn)
n.2637T>A
Xg.53248861C>ACA413158811IQSEC2c.2478G>T (p.Gln826His)
c.271G>T
c.2319G>T (p.Gln773His)
c.2289G>T (p.Gln763His)
c.1704G>T (p.Gln568His)
c.2415G>T (p.Gln805His)
c.1641G>T (p.Gln547His)
c.1608G>T (p.Gln536His)
n.2642G>T
c.1821G>T (p.Gln607His)
n.2636G>T
Xg.53248861C=CA2429775093IQSEC2c.2478G= (p.Gln826=)
c.271G=
c.2319G= (p.Gln773=)
c.2289G= (p.Gln763=)
c.1704G= (p.Gln568=)
c.2415G= (p.Gln805=)
c.1641G= (p.Gln547=)
c.1608G= (p.Gln536=)
n.2642G=
c.1821G= (p.Gln607=)
n.2636G=
Xg.53248861C>GCA413158818IQSEC2c.2478G>C (p.Gln826His)
c.271G>C
c.2319G>C (p.Gln773His)
c.2289G>C (p.Gln763His)
c.1704G>C (p.Gln568His)
c.2415G>C (p.Gln805His)
c.1641G>C (p.Gln547His)
c.1608G>C (p.Gln536His)
n.2642G>C
c.1821G>C (p.Gln607His)
n.2636G>C
Xg.53248861C>TCA10419950IQSEC2c.2478G>A (p.Gln826=)
c.271G>A
c.2319G>A (p.Gln773=)
c.2289G>A (p.Gln763=)
c.1704G>A (p.Gln568=)
c.2415G>A (p.Gln805=)
c.1641G>A (p.Gln547=)
c.1608G>A (p.Gln536=)
n.2642G>A
c.1821G>A (p.Gln607=)
n.2636G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248862T>ACA413158823IQSEC2c.2477A>T (p.Gln826Leu)
c.270A>T
c.2318A>T (p.Gln773Leu)
c.2288A>T (p.Gln763Leu)
c.1703A>T (p.Gln568Leu)
c.2414A>T (p.Gln805Leu)
c.1640A>T (p.Gln547Leu)
c.1607A>T (p.Gln536Leu)
n.2641A>T
c.1820A>T (p.Gln607Leu)
n.2635A>T
Xg.53248862T>CCA413158827IQSEC2c.2477A>G (p.Gln826Arg)
c.270A>G
c.2318A>G (p.Gln773Arg)
c.2288A>G (p.Gln763Arg)
c.1703A>G (p.Gln568Arg)
c.2414A>G (p.Gln805Arg)
c.1640A>G (p.Gln547Arg)
c.1607A>G (p.Gln536Arg)
n.2641A>G
c.1820A>G (p.Gln607Arg)
n.2635A>G
 gnomAD v4
Xg.53248862T>GCA413158829IQSEC2c.2477A>C (p.Gln826Pro)
c.270A>C
c.2318A>C (p.Gln773Pro)
c.2288A>C (p.Gln763Pro)
c.1703A>C (p.Gln568Pro)
c.2414A>C (p.Gln805Pro)
c.1640A>C (p.Gln547Pro)
c.1607A>C (p.Gln536Pro)
n.2641A>C
c.1820A>C (p.Gln607Pro)
n.2635A>C
Xg.53248863G>ACA413158833IQSEC2c.2476C>T (p.Gln826Ter)
c.269C>T
c.2317C>T (p.Gln773Ter)
c.2287C>T (p.Gln763Ter)
c.1702C>T (p.Gln568Ter)
c.2413C>T (p.Gln805Ter)
c.1639C>T (p.Gln547Ter)
c.1606C>T (p.Gln536Ter)
n.2640C>T
c.1819C>T (p.Gln607Ter)
n.2634C>T
Xg.53248863G>CCA413158834IQSEC2c.2476C>G (p.Gln826Glu)
c.269C>G
c.2317C>G (p.Gln773Glu)
c.2287C>G (p.Gln763Glu)
c.1702C>G (p.Gln568Glu)
c.2413C>G (p.Gln805Glu)
c.1639C>G (p.Gln547Glu)
c.1606C>G (p.Gln536Glu)
n.2640C>G
c.1819C>G (p.Gln607Glu)
n.2634C>G
Xg.53248863G>TCA413158835IQSEC2c.2476C>A (p.Gln826Lys)
c.269C>A
c.2317C>A (p.Gln773Lys)
c.2287C>A (p.Gln763Lys)
c.1702C>A (p.Gln568Lys)
c.2413C>A (p.Gln805Lys)
c.1639C>A (p.Gln547Lys)
c.1606C>A (p.Gln536Lys)
n.2640C>A
c.1819C>A (p.Gln607Lys)
n.2634C>A
Xg.53248864G>ACA516428938IQSEC2c.2475C>T (p.Ile825=)
c.268C>T
c.2316C>T (p.Ile772=)
c.2286C>T (p.Ile762=)
c.1701C>T (p.Ile567=)
c.2412C>T (p.Ile804=)
c.1638C>T (p.Ile546=)
c.1605C>T (p.Ile535=)
n.2639C>T
c.1818C>T (p.Ile606=)
n.2633C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248864G>CCA413158839IQSEC2c.2475C>G (p.Ile825Met)
c.268C>G
c.2316C>G (p.Ile772Met)
c.2286C>G (p.Ile762Met)
c.1701C>G (p.Ile567Met)
c.2412C>G (p.Ile804Met)
c.1638C>G (p.Ile546Met)
c.1605C>G (p.Ile535Met)
n.2639C>G
c.1818C>G (p.Ile606Met)
n.2633C>G
 gnomAD v4
Xg.53248864G=CA2429775094IQSEC2c.2475C= (p.Ile825=)
c.268C=
c.2316C= (p.Ile772=)
c.2286C= (p.Ile762=)
c.1701C= (p.Ile567=)
c.2412C= (p.Ile804=)
c.1638C= (p.Ile546=)
c.1605C= (p.Ile535=)
n.2639C=
c.1818C= (p.Ile606=)
n.2633C=
Xg.53248864G>TCA516428940IQSEC2c.2475C>A (p.Ile825=)
c.268C>A
c.2316C>A (p.Ile772=)
c.2286C>A (p.Ile762=)
c.1701C>A (p.Ile567=)
c.2412C>A (p.Ile804=)
c.1638C>A (p.Ile546=)
c.1605C>A (p.Ile535=)
n.2639C>A
c.1818C>A (p.Ile606=)
n.2633C>A
 gnomAD v4
Xg.53248865A>CCA413158855IQSEC2c.2474T>G (p.Ile825Ser)
c.267T>G
c.2315T>G (p.Ile772Ser)
c.2285T>G (p.Ile762Ser)
c.1700T>G (p.Ile567Ser)
c.2411T>G (p.Ile804Ser)
c.1637T>G (p.Ile546Ser)
c.1604T>G (p.Ile535Ser)
n.2638T>G
c.1817T>G (p.Ile606Ser)
n.2632T>G
Xg.53248865A>GCA413158860IQSEC2c.2474T>C (p.Ile825Thr)
c.267T>C
c.2315T>C (p.Ile772Thr)
c.2285T>C (p.Ile762Thr)
c.1700T>C (p.Ile567Thr)
c.2411T>C (p.Ile804Thr)
c.1637T>C (p.Ile546Thr)
c.1604T>C (p.Ile535Thr)
n.2638T>C
c.1817T>C (p.Ile606Thr)
n.2632T>C
Xg.53248865A>TCA413158864IQSEC2c.2474T>A (p.Ile825Asn)
c.267T>A
c.2315T>A (p.Ile772Asn)
c.2285T>A (p.Ile762Asn)
c.1700T>A (p.Ile567Asn)
c.2411T>A (p.Ile804Asn)
c.1637T>A (p.Ile546Asn)
c.1604T>A (p.Ile535Asn)
n.2638T>A
c.1817T>A (p.Ile606Asn)
n.2632T>A
Xg.53248866T>ACA413158882IQSEC2c.2473A>T (p.Ile825Phe)
c.266A>T
c.2314A>T (p.Ile772Phe)
c.2284A>T (p.Ile762Phe)
c.1699A>T (p.Ile567Phe)
c.2410A>T (p.Ile804Phe)
c.1636A>T (p.Ile546Phe)
c.1603A>T (p.Ile535Phe)
n.2637A>T
c.1816A>T (p.Ile606Phe)
n.2631A>T
Xg.53248866T>CCA413158879IQSEC2c.2473A>G (p.Ile825Val)
c.266A>G
c.2314A>G (p.Ile772Val)
c.2284A>G (p.Ile762Val)
c.1699A>G (p.Ile567Val)
c.2410A>G (p.Ile804Val)
c.1636A>G (p.Ile546Val)
c.1603A>G (p.Ile535Val)
n.2637A>G
c.1816A>G (p.Ile606Val)
n.2631A>G
 gnomAD v4
Xg.53248866T>GCA413158875IQSEC2c.2473A>C (p.Ile825Leu)
c.266A>C
c.2314A>C (p.Ile772Leu)
c.2284A>C (p.Ile762Leu)
c.1699A>C (p.Ile567Leu)
c.2410A>C (p.Ile804Leu)
c.1636A>C (p.Ile546Leu)
c.1603A>C (p.Ile535Leu)
n.2637A>C
c.1816A>C (p.Ile606Leu)
n.2631A>C
Xg.53248867A>CCA516428945IQSEC2c.2472T>G (p.Gly824=)
c.265T>G
c.2313T>G (p.Gly771=)
c.2283T>G (p.Gly761=)
c.1698T>G (p.Gly566=)
c.2409T>G (p.Gly803=)
c.1635T>G (p.Gly545=)
c.1602T>G (p.Gly534=)
n.2636T>G
c.1815T>G (p.Gly605=)
n.2630T>G
Xg.53248867A>GCA516428946IQSEC2c.2472T>C (p.Gly824=)
c.265T>C
c.2313T>C (p.Gly771=)
c.2283T>C (p.Gly761=)
c.1698T>C (p.Gly566=)
c.2409T>C (p.Gly803=)
c.1635T>C (p.Gly545=)
c.1602T>C (p.Gly534=)
n.2636T>C
c.1815T>C (p.Gly605=)
n.2630T>C
Xg.53248867A>TCA516428949IQSEC2c.2472T>A (p.Gly824=)
c.265T>A
c.2313T>A (p.Gly771=)
c.2283T>A (p.Gly761=)
c.1698T>A (p.Gly566=)
c.2409T>A (p.Gly803=)
c.1635T>A (p.Gly545=)
c.1602T>A (p.Gly534=)
n.2636T>A
c.1815T>A (p.Gly605=)
n.2630T>A
Xg.53248868C>ACA413158888IQSEC2c.2471G>T (p.Gly824Val)
c.264G>T
c.2312G>T (p.Gly771Val)
c.2282G>T (p.Gly761Val)
c.1697G>T (p.Gly566Val)
c.2408G>T (p.Gly803Val)
c.1634G>T (p.Gly545Val)
c.1601G>T (p.Gly534Val)
n.2635G>T
c.1814G>T (p.Gly605Val)
n.2629G>T
Xg.53248868C>GCA413158893IQSEC2c.2471G>C (p.Gly824Ala)
c.264G>C
c.2312G>C (p.Gly771Ala)
c.2282G>C (p.Gly761Ala)
c.1697G>C (p.Gly566Ala)
c.2408G>C (p.Gly803Ala)
c.1634G>C (p.Gly545Ala)
c.1601G>C (p.Gly534Ala)
n.2635G>C
c.1814G>C (p.Gly605Ala)
n.2629G>C
Xg.53248868C>TCA413158898IQSEC2c.2471G>A (p.Gly824Asp)
c.264G>A
c.2312G>A (p.Gly771Asp)
c.2282G>A (p.Gly761Asp)
c.1697G>A (p.Gly566Asp)
c.2408G>A (p.Gly803Asp)
c.1634G>A (p.Gly545Asp)
c.1601G>A (p.Gly534Asp)
n.2635G>A
c.1814G>A (p.Gly605Asp)
n.2629G>A
Xg.53248869C>ACA413158902IQSEC2c.2470G>T (p.Gly824Cys)
c.263G>T
c.2311G>T (p.Gly771Cys)
c.2281G>T (p.Gly761Cys)
c.1696G>T (p.Gly566Cys)
c.2407G>T (p.Gly803Cys)
c.1633G>T (p.Gly545Cys)
c.1600G>T (p.Gly534Cys)
n.2634G>T
c.1813G>T (p.Gly605Cys)
n.2628G>T
Xg.53248869C>GCA413158913IQSEC2c.2470G>C (p.Gly824Arg)
c.263G>C
c.2311G>C (p.Gly771Arg)
c.2281G>C (p.Gly761Arg)
c.1696G>C (p.Gly566Arg)
c.2407G>C (p.Gly803Arg)
c.1633G>C (p.Gly545Arg)
c.1600G>C (p.Gly534Arg)
n.2634G>C
c.1813G>C (p.Gly605Arg)
n.2628G>C
Xg.53248869C>TCA413158917IQSEC2c.2470G>A (p.Gly824Ser)
c.263G>A
c.2311G>A (p.Gly771Ser)
c.2281G>A (p.Gly761Ser)
c.1696G>A (p.Gly566Ser)
c.2407G>A (p.Gly803Ser)
c.1633G>A (p.Gly545Ser)
c.1600G>A (p.Gly534Ser)
n.2634G>A
c.1813G>A (p.Gly605Ser)
n.2628G>A
Xg.53248870C>ACA413158929IQSEC2c.2469G>T (p.Lys823Asn)
c.262G>T
c.2310G>T (p.Lys770Asn)
c.2280G>T (p.Lys760Asn)
c.1695G>T (p.Lys565Asn)
c.2406G>T (p.Lys802Asn)
c.1632G>T (p.Lys544Asn)
c.1599G>T (p.Lys533Asn)
n.2633G>T
c.1812G>T (p.Lys604Asn)
n.2627G>T
Xg.53248870C>GCA413158930IQSEC2c.2469G>C (p.Lys823Asn)
c.262G>C
c.2310G>C (p.Lys770Asn)
c.2280G>C (p.Lys760Asn)
c.1695G>C (p.Lys565Asn)
c.2406G>C (p.Lys802Asn)
c.1632G>C (p.Lys544Asn)
c.1599G>C (p.Lys533Asn)
n.2633G>C
c.1812G>C (p.Lys604Asn)
n.2627G>C
Xg.53248870C>TCA516428952IQSEC2c.2469G>A (p.Lys823=)
c.262G>A
c.2310G>A (p.Lys770=)
c.2280G>A (p.Lys760=)
c.1695G>A (p.Lys565=)
c.2406G>A (p.Lys802=)
c.1632G>A (p.Lys544=)
c.1599G>A (p.Lys533=)
n.2633G>A
c.1812G>A (p.Lys604=)
n.2627G>A
 gnomAD v4
Xg.53248871T>ACA413158934IQSEC2c.2468A>T (p.Lys823Met)
c.261A>T
c.2309A>T (p.Lys770Met)
c.2279A>T (p.Lys760Met)
c.1694A>T (p.Lys565Met)
c.2405A>T (p.Lys802Met)
c.1631A>T (p.Lys544Met)
c.1598A>T (p.Lys533Met)
n.2632A>T
c.1811A>T (p.Lys604Met)
n.2626A>T
Xg.53248871T>CCA413158936IQSEC2c.2468A>G (p.Lys823Arg)
c.261A>G
c.2309A>G (p.Lys770Arg)
c.2279A>G (p.Lys760Arg)
c.1694A>G (p.Lys565Arg)
c.2405A>G (p.Lys802Arg)
c.1631A>G (p.Lys544Arg)
c.1598A>G (p.Lys533Arg)
n.2632A>G
c.1811A>G (p.Lys604Arg)
n.2626A>G
Xg.53248871T>GCA413158942IQSEC2c.2468A>C (p.Lys823Thr)
c.261A>C
c.2309A>C (p.Lys770Thr)
c.2279A>C (p.Lys760Thr)
c.1694A>C (p.Lys565Thr)
c.2405A>C (p.Lys802Thr)
c.1631A>C (p.Lys544Thr)
c.1598A>C (p.Lys533Thr)
n.2632A>C
c.1811A>C (p.Lys604Thr)
n.2626A>C
Xg.53248872T>ACA413158947IQSEC2c.2467A>T (p.Lys823Ter)
c.260A>T
c.2308A>T (p.Lys770Ter)
c.2278A>T (p.Lys760Ter)
c.1693A>T (p.Lys565Ter)
c.2404A>T (p.Lys802Ter)
c.1630A>T (p.Lys544Ter)
c.1597A>T (p.Lys533Ter)
n.2631A>T
c.1810A>T (p.Lys604Ter)
n.2625A>T
Xg.53248872T>CCA413158951IQSEC2c.2467A>G (p.Lys823Glu)
c.260A>G
c.2308A>G (p.Lys770Glu)
c.2278A>G (p.Lys760Glu)
c.1693A>G (p.Lys565Glu)
c.2404A>G (p.Lys802Glu)
c.1630A>G (p.Lys544Glu)
c.1597A>G (p.Lys533Glu)
n.2631A>G
c.1810A>G (p.Lys604Glu)
n.2625A>G
Xg.53248872T>GCA413158954IQSEC2c.2467A>C (p.Lys823Gln)
c.260A>C
c.2308A>C (p.Lys770Gln)
c.2278A>C (p.Lys760Gln)
c.1693A>C (p.Lys565Gln)
c.2404A>C (p.Lys802Gln)
c.1630A>C (p.Lys544Gln)
c.1597A>C (p.Lys533Gln)
n.2631A>C
c.1810A>C (p.Lys604Gln)
n.2625A>C
Xg.53248873C>ACA413158964IQSEC2c.2466G>T (p.Glu822Asp)
c.259G>T
c.2307G>T (p.Glu769Asp)
c.2277G>T (p.Glu759Asp)
c.1692G>T (p.Glu564Asp)
c.2403G>T (p.Glu801Asp)
c.1629G>T (p.Glu543Asp)
c.1596G>T (p.Glu532Asp)
n.2630G>T
c.1809G>T (p.Glu603Asp)
n.2624G>T
Xg.53248873C>GCA413158959IQSEC2c.2466G>C (p.Glu822Asp)
c.259G>C
c.2307G>C (p.Glu769Asp)
c.2277G>C (p.Glu759Asp)
c.1692G>C (p.Glu564Asp)
c.2403G>C (p.Glu801Asp)
c.1629G>C (p.Glu543Asp)
c.1596G>C (p.Glu532Asp)
n.2630G>C
c.1809G>C (p.Glu603Asp)
n.2624G>C
Xg.53248873C>TCA516428963IQSEC2c.2466G>A (p.Glu822=)
c.259G>A
c.2307G>A (p.Glu769=)
c.2277G>A (p.Glu759=)
c.1692G>A (p.Glu564=)
c.2403G>A (p.Glu801=)
c.1629G>A (p.Glu543=)
c.1596G>A (p.Glu532=)
n.2630G>A
c.1809G>A (p.Glu603=)
n.2624G>A

Number of alleles fetched