Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.130208448_130208449delinsTGCA2008889503ST14c.2033_2034delinsTG (p.Leu678=)
11g.130208449delCA151133ST14c.2034del (p.Leu678PhefsTer?)
ClinVar dbSNP
11g.130208449G>ACA477549225ST14c.2034G>A (p.Leu678=)
11g.130208449G>CCA383321923ST14c.2034G>C (p.Leu678Phe)
11g.130208449G>TCA383321925ST14c.2034G>T (p.Leu678Phe)
11g.130208450C>ACA383321937ST14c.2035C>A (p.His679Asn)
11g.130208450C>GCA383321929ST14c.2035C>G (p.His679Asp)
11g.130208450C>TCA383321935ST14c.2035C>T (p.His679Tyr)
gnomAD v4
11g.130208451A=CA2008889707ST14c.2036A= (p.His679=)
11g.130208451A>CCA383321940ST14c.2036A>C (p.His679Pro)
11g.130208451A>GCA383321942ST14c.2036A>G (p.His679Arg)
dbSNP gnomAD v3 gnomAD v4
11g.130208451A>TCA383321944ST14c.2036A>T (p.His679Leu)
11g.130208452C>ACA383321947ST14c.2037C>A (p.His679Gln)
11g.130208452C=CA2008889713ST14c.2037C= (p.His679=)
11g.130208452C>GCA6364293ST14c.2037C>G (p.His679Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.130208452C>TCA477549234ST14c.2037C>T (p.His679=)
dbSNP gnomAD v4
11g.130208453G>ACA383321952ST14c.2038G>A (p.Asp680Asn)
11g.130208453G>CCA383321953ST14c.2038G>C (p.Asp680His)
11g.130208453G>TCA383321956ST14c.2038G>T (p.Asp680Tyr)
gnomAD v4
11g.130208454A>CCA383321960ST14c.2039A>C (p.Asp680Ala)
11g.130208454A>GCA383321962ST14c.2039A>G (p.Asp680Gly)
11g.130208454A>TCA383321966ST14c.2039A>T (p.Asp680Val)
11g.130208455C>ACA383321970ST14c.2040C>A (p.Asp680Glu)
11g.130208455C=CA2008889720ST14c.2040C= (p.Asp680=)
11g.130208455C>GCA383321974ST14c.2040C>G (p.Asp680Glu)
dbSNP
11g.130208455C>TCA477549240ST14c.2040C>T (p.Asp680=)
gnomAD v4
11g.130208456C>ACA383321977ST14c.2041C>A (p.Gln681Lys)
gnomAD v4
11g.130208456C>GCA383321988ST14c.2041C>G (p.Gln681Glu)
11g.130208456C>TCA383321980ST14c.2041C>T (p.Gln681Ter)
11g.130208457A>CCA383321991ST14c.2042A>C (p.Gln681Pro)
11g.130208457A>GCA383321992ST14c.2042A>G (p.Gln681Arg)
gnomAD v4
11g.130208457A>TCA383321994ST14c.2042A>T (p.Gln681Leu)
11g.130208458G>ACA477549247ST14c.2043G>A (p.Gln681=)
11g.130208458G>CCA383321996ST14c.2043G>C (p.Gln681His)
11g.130208458G>TCA383321998ST14c.2043G>T (p.Gln681His)
11g.130208459A>CCA383322001ST14c.2044A>C (p.Ser682Arg)
11g.130208459A>GCA383322006ST14c.2044A>G (p.Ser682Gly)
gnomAD v4
11g.130208459A>TCA383322008ST14c.2044A>T (p.Ser682Cys)
11g.130208460G>ACA383322011ST14c.2045G>A (p.Ser682Asn)
11g.130208460G>CCA383322016ST14c.2045G>C (p.Ser682Thr)
11g.130208460G>TCA383322017ST14c.2045G>T (p.Ser682Ile)
11g.130208461C>ACA383322019ST14c.2046C>A (p.Ser682Arg)
11g.130208461C=CA2008889728ST14c.2046C= (p.Ser682=)
11g.130208461C>GCA383322021ST14c.2046C>G (p.Ser682Arg)
11g.130208461C>TCA477549253ST14c.2046C>T (p.Ser682=)
dbSNP gnomAD v2 gnomAD v4
11g.130208462C>ACA383322029ST14c.2047C>A (p.Gln683Lys)
11g.130208462C=CA2008889732ST14c.2047C= (p.Gln683=)
11g.130208462C>GCA383322024ST14c.2047C>G (p.Gln683Glu)
11g.130208462C>TCA383322027ST14c.2047C>T (p.Gln683Ter)
dbSNP
11g.130208463A=CA2008889737ST14c.2048A= (p.Gln683=)
11g.130208463A>CCA230706941ST14c.2048A>C (p.Gln683Pro)
dbSNP gnomAD v4
11g.130208463A>GCA383322033ST14c.2048A>G (p.Gln683Arg)
11g.130208463A>TCA383322035ST14c.2048A>T (p.Gln683Leu)
11g.130208464G>ACA477549260ST14c.2049G>A (p.Gln683=)
dbSNP gnomAD v2
11g.130208464G>CCA383322044ST14c.2049G>C (p.Gln683His)
11g.130208464G=CA2008889742ST14c.2049G= (p.Gln683=)
11g.130208464G>TCA383322047ST14c.2049G>T (p.Gln683His)
11g.130208465C>ACA383322049ST14c.2050C>A (p.Arg684Ser)
gnomAD v4
11g.130208465C>GCA383322051ST14c.2050C>G (p.Arg684Gly)
11g.130208465C>TCA383322052ST14c.2050C>T (p.Arg684Cys)
gnomAD v4 COSMIC
11g.130208466G>ACA383322056ST14c.2051G>A (p.Arg684His)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.130208466G>CCA6364294ST14c.2051G>C (p.Arg684Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.130208466G=CA2008889746ST14c.2051G= (p.Arg684=)
11g.130208466G>TCA383322060ST14c.2051G>T (p.Arg684Leu)
11g.130208467C>ACA477549268ST14c.2052C>A (p.Arg684=)
11g.130208467C=CA2008889751ST14c.2052C= (p.Arg684=)
11g.130208467C>GCA477549266ST14c.2052C>G (p.Arg684=)
11g.130208467C>TCA477549270ST14c.2052C>T (p.Arg684=)
dbSNP gnomAD v4
11g.130208468A>CCA383322063ST14c.2053A>C (p.Ser685Arg)
11g.130208468A>GCA383322067ST14c.2053A>G (p.Ser685Gly)
11g.130208468A>TCA383322064ST14c.2053A>T (p.Ser685Cys)
11g.130208469G>ACA383322069ST14c.2054G>A (p.Ser685Asn)
gnomAD v4
11g.130208469G>CCA383322074ST14c.2054G>C (p.Ser685Thr)
11g.130208469G>TCA383322072ST14c.2054G>T (p.Ser685Ile)
11g.130208470C>ACA383322076ST14c.2055C>A (p.Ser685Arg)
11g.130208470C=CA2008889763ST14c.2055C= (p.Ser685=)
11g.130208470C>GCA383322078ST14c.2055C>G (p.Ser685Arg)
11g.130208470C>TCA477549276ST14c.2055C>T (p.Ser685=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.130208471G>ACA6364295ST14c.2056G>A (p.Ala686Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.130208471G>CCA383322082ST14c.2056G>C (p.Ala686Pro)
11g.130208471G=CA2008889776ST14c.2056G= (p.Ala686=)
11g.130208471G>TCA383322085ST14c.2056G>T (p.Ala686Ser)
11g.130208472C>ACA383322088ST14c.2057C>A (p.Ala686Asp)
11g.130208472C=CA2008889780ST14c.2057C= (p.Ala686=)
11g.130208472C>GCA383322091ST14c.2057C>G (p.Ala686Gly)
11g.130208472C>TCA383322093ST14c.2057C>T (p.Ala686Val)
dbSNP gnomAD v2
11g.130208473C>ACA477549285ST14c.2058C>A (p.Ala686=)
11g.130208473C=CA2008889783ST14c.2058C= (p.Ala686=)
11g.130208473C>GCA477549284ST14c.2058C>G (p.Ala686=)
11g.130208473C>TCA6364296ST14c.2058C>T (p.Ala686=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208474C>ACA383322095ST14c.2059C>A (p.Pro687Thr)
11g.130208474C=CA2008889785ST14c.2059C= (p.Pro687=)
11g.130208474C>GCA383322096ST14c.2059C>G (p.Pro687Ala)
11g.130208474C>TCA383322098ST14c.2059C>T (p.Pro687Ser)
dbSNP gnomAD v2 gnomAD v4
11g.130208475C>ACA383322102ST14c.2060C>A (p.Pro687His)
11g.130208475C>GCA383322106ST14c.2060C>G (p.Pro687Arg)
11g.130208475C>TCA383322105ST14c.2060C>T (p.Pro687Leu)
11g.130208476T>ACA477549289ST14c.2061T>A (p.Pro687=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.130208476T>CCA477549292ST14c.2061T>C (p.Pro687=)
11g.130208476T>GCA477549290ST14c.2061T>G (p.Pro687=)
11g.130208476T=CA2008889788ST14c.2061T= (p.Pro687=)
11g.130208477G>ACA383322110ST14c.2062G>A (p.Gly688Arg)
dbSNP gnomAD v3 gnomAD v4
11g.130208477G>CCA383322111ST14c.2062G>C (p.Gly688Arg)
11g.130208477G=CA2008889793ST14c.2062G= (p.Gly688=)
11g.130208477G>TCA383322114ST14c.2062G>T (p.Gly688Trp)
11g.130208478G>ACA6364297ST14c.2063G>A (p.Gly688Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208478G>CCA383322119ST14c.2063G>C (p.Gly688Ala)
gnomAD v4
11g.130208478G=CA2008889800ST14c.2063G= (p.Gly688=)
11g.130208478G>TCA383322121ST14c.2063G>T (p.Gly688Val)
11g.130208479G>ACA477549299ST14c.2064G>A (p.Gly688=)
11g.130208479G>CCA477549300ST14c.2064G>C (p.Gly688=)
dbSNP gnomAD v3 gnomAD v4
11g.130208479G=CA2008889809ST14c.2064G= (p.Gly688=)
11g.130208479G>TCA477549302ST14c.2064G>T (p.Gly688=)
gnomAD v4
11g.130208480G>ACA383322123ST14c.2065G>A (p.Val689Met)
gnomAD v4
11g.130208480G>CCA383322125ST14c.2065G>C (p.Val689Leu)
11g.130208480G>TCA383322128ST14c.2065G>T (p.Val689Leu)
11g.130208481T>ACA383322130ST14c.2066T>A (p.Val689Glu)
11g.130208481T>CCA383322132ST14c.2066T>C (p.Val689Ala)
11g.130208481T>GCA383322129ST14c.2066T>G (p.Val689Gly)
11g.130208482G>ACA477549309ST14c.2067G>A (p.Val689=)
gnomAD v4
11g.130208482G>CCA477549311ST14c.2067G>C (p.Val689=)
11g.130208482G>TCA477549314ST14c.2067G>T (p.Val689=)
11g.130208483C>ACA383322134ST14c.2068C>A (p.Gln690Lys)
11g.130208483C>GCA383322136ST14c.2068C>G (p.Gln690Glu)
gnomAD v4
11g.130208483C>TCA383322138ST14c.2068C>T (p.Gln690Ter)
11g.130208484A>CCA383322141ST14c.2069A>C (p.Gln690Pro)
11g.130208484A>GCA383322143ST14c.2069A>G (p.Gln690Arg)
11g.130208484A>TCA383322150ST14c.2069A>T (p.Gln690Leu)
gnomAD v4
11g.130208485G>ACA477549321ST14c.2070G>A (p.Gln690=)
11g.130208485G>CCA383322152ST14c.2070G>C (p.Gln690His)
11g.130208485G=CA2008889825ST14c.2070G= (p.Gln690=)
11g.130208485G>TCA383322154ST14c.2070G>T (p.Gln690His)
dbSNP
11g.130208486G>ACA383322155ST14c.2071G>A (p.Glu691Lys)
dbSNP
11g.130208486G>CCA383322156ST14c.2071G>C (p.Glu691Gln)
11g.130208486G=CA2008889834ST14c.2071G= (p.Glu691=)
11g.130208486G>TCA383322158ST14c.2071G>T (p.Glu691Ter)
11g.130208487A>CCA383322164ST14c.2072A>C (p.Glu691Ala)
11g.130208487A>GCA383322173ST14c.2072A>G (p.Glu691Gly)
11g.130208487A>TCA383322162ST14c.2072A>T (p.Glu691Val)
11g.130208488G>ACA477549325ST14c.2073G>A (p.Glu691=)
11g.130208488G>CCA383322176ST14c.2073G>C (p.Glu691Asp)
11g.130208488G>TCA383322179ST14c.2073G>T (p.Glu691Asp)
11g.130208489C>ACA383322180ST14c.2074C>A (p.Arg692Ser)
gnomAD v4
11g.130208489C=CA2008889840ST14c.2074C= (p.Arg692=)
11g.130208489C>GCA6364298ST14c.2074C>G (p.Arg692Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208489C>TCA383322184ST14c.2074C>T (p.Arg692Cys)
gnomAD v4 COSMIC
11g.130208490G>ACA6364299ST14c.2075G>A (p.Arg692His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.130208490G>CCA383322940ST14c.2075G>C (p.Arg692Pro)
11g.130208490G=CA2008889849ST14c.2075G= (p.Arg692=)
11g.130208490G>TCA383322942ST14c.2075G>T (p.Arg692Leu)
11g.130208491C>ACA477549689ST14c.2076C>A (p.Arg692=)
11g.130208491C>GCA477549692ST14c.2076C>G (p.Arg692=)
11g.130208491C>TCA477549691ST14c.2076C>T (p.Arg692=)
11g.130208492A>CCA477549694ST14c.2077A>C (p.Arg693=)
11g.130208492A>GCA383322943ST14c.2077A>G (p.Arg693Gly)
11g.130208492A>TCA383322944ST14c.2077A>T (p.Arg693Trp)
gnomAD v4
11g.130208493G>ACA230706996ST14c.2078G>A (p.Arg693Lys)
dbSNP gnomAD v4
11g.130208493G>CCA383322946ST14c.2078G>C (p.Arg693Thr)
11g.130208493G=CA2008889852ST14c.2078G= (p.Arg693=)
11g.130208493G>TCA383322947ST14c.2078G>T (p.Arg693Met)
11g.130208494G>ACA6364300ST14c.2079G>A (p.Arg693=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208494G>CCA383322951ST14c.2079G>C (p.Arg693Ser)
11g.130208494G=CA2008889857ST14c.2079G= (p.Arg693=)
11g.130208494G>TCA383322948ST14c.2079G>T (p.Arg693Ser)
11g.130208495C>ACA383322954ST14c.2080C>A (p.Leu694Ile)
11g.130208495C>GCA383322959ST14c.2080C>G (p.Leu694Val)
dbSNP
11g.130208495C>TCA383322957ST14c.2080C>T (p.Leu694Phe)
11g.130208496T>ACA383322961ST14c.2081T>A (p.Leu694His)
11g.130208496T>CCA383322962ST14c.2081T>C (p.Leu694Pro)
11g.130208496T>GCA383322963ST14c.2081T>G (p.Leu694Arg)
11g.130208497C>ACA477549704ST14c.2082C>A (p.Leu694=)
11g.130208497C=CA2008889862ST14c.2082C= (p.Leu694=)
11g.130208497C>GCA477549706ST14c.2082C>G (p.Leu694=)
dbSNP gnomAD v4
11g.130208497C>TCA477549705ST14c.2082C>T (p.Leu694=)
dbSNP gnomAD v4
11g.130208498A>CCA383322964ST14c.2083A>C (p.Lys695Gln)
11g.130208498A>GCA383322966ST14c.2083A>G (p.Lys695Glu)
11g.130208498A>TCA383322968ST14c.2083A>T (p.Lys695Ter)
11g.130208499A>CCA383322970ST14c.2084A>C (p.Lys695Thr)
11g.130208499A>GCA383322971ST14c.2084A>G (p.Lys695Arg)
gnomAD v4
11g.130208499A>TCA383322973ST14c.2084A>T (p.Lys695Met)
11g.130208500G>ACA6364301ST14c.2085G>A (p.Lys695=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208500G>CCA383322976ST14c.2085G>C (p.Lys695Asn)
11g.130208500G=CA2008889864ST14c.2085G= (p.Lys695=)
11g.130208500G>TCA383322978ST14c.2085G>T (p.Lys695Asn)
11g.130208501C>ACA383322982ST14c.2086C>A (p.Arg696Ser)
gnomAD v4
11g.130208501C=CA2008889875ST14c.2086C= (p.Arg696=)
11g.130208501C>GCA383322980ST14c.2086C>G (p.Arg696Gly)
11g.130208501C>TCA383322979ST14c.2086C>T (p.Arg696Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.130208502G>ACA383322985ST14c.2087G>A (p.Arg696His)
dbSNP gnomAD v2 gnomAD v4
11g.130208502G>CCA383322987ST14c.2087G>C (p.Arg696Pro)
11g.130208502G=CA2008889886ST14c.2087G= (p.Arg696=)
11g.130208502G>TCA383322988ST14c.2087G>T (p.Arg696Leu)
11g.130208503C>ACA477549715ST14c.2088C>A (p.Arg696=)
11g.130208503C>GCA477549717ST14c.2088C>G (p.Arg696=)
11g.130208503C>TCA477549718ST14c.2088C>T (p.Arg696=)
gnomAD v4
11g.130208504A=CA2008889890ST14c.2089A= (p.Ile697=)
11g.130208504A>CCA383322990ST14c.2089A>C (p.Ile697Leu)
11g.130208504A>GCA6364302ST14c.2089A>G (p.Ile697Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.130208504A>TCA383322993ST14c.2089A>T (p.Ile697Phe)
11g.130208505T>ACA383322996ST14c.2090T>A (p.Ile697Asn)
11g.130208505T>CCA383322998ST14c.2090T>C (p.Ile697Thr)
11g.130208505T>GCA383322999ST14c.2090T>G (p.Ile697Ser)
11g.130208506C>ACA477549725ST14c.2091C>A (p.Ile697=)
11g.130208506C>GCA383323000ST14c.2091C>G (p.Ile697Met)
11g.130208506C>TCA477549724ST14c.2091C>T (p.Ile697=)
gnomAD v4
11g.130208507A>CCA383323002ST14c.2092A>C (p.Ile698Leu)
11g.130208507A>GCA383323004ST14c.2092A>G (p.Ile698Val)
11g.130208507A>TCA383323006ST14c.2092A>T (p.Ile698Phe)
gnomAD v4
11g.130208508T>ACA383323010ST14c.2093T>A (p.Ile698Asn)
11g.130208508T>CCA383323012ST14c.2093T>C (p.Ile698Thr)
11g.130208508T>GCA383323008ST14c.2093T>G (p.Ile698Ser)
11g.130208509C>ACA477549730ST14c.2094C>A (p.Ile698=)
11g.130208509C>GCA383323014ST14c.2094C>G (p.Ile698Met)
11g.130208509C>TCA477549732ST14c.2094C>T (p.Ile698=)
11g.130208510T>ACA383323017ST14c.2095T>A (p.Ser699Thr)
gnomAD v4
11g.130208510T>CCA6364303ST14c.2095T>C (p.Ser699Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208510T>GCA383323019ST14c.2095T>G (p.Ser699Ala)
11g.130208510T=CA2008889894ST14c.2095T= (p.Ser699=)
11g.130208511C>ACA383323022ST14c.2096C>A (p.Ser699Tyr)
gnomAD v4
11g.130208511C>GCA383323023ST14c.2096C>G (p.Ser699Cys)
11g.130208511C>TCA383323025ST14c.2096C>T (p.Ser699Phe)
11g.130208512C>ACA477549740ST14c.2097C>A (p.Ser699=)
11g.130208512C>GCA477549738ST14c.2097C>G (p.Ser699=)
11g.130208512C>TCA477549739ST14c.2097C>T (p.Ser699=)
gnomAD v4
11g.130208513C>ACA383323027ST14c.2098C>A (p.His700Asn)
11g.130208513C>GCA383323029ST14c.2098C>G (p.His700Asp)
11g.130208513C>TCA383323031ST14c.2098C>T (p.His700Tyr)
11g.130208514A=CA2008889898ST14c.2099A= (p.His700=)
11g.130208514A>CCA383323038ST14c.2099A>C (p.His700Pro)
dbSNP
11g.130208514A>GCA383323036ST14c.2099A>G (p.His700Arg)
11g.130208514A>TCA383323033ST14c.2099A>T (p.His700Leu)
11g.130208515C>ACA383323040ST14c.2100C>A (p.His700Gln)
11g.130208515C>GCA383323042ST14c.2100C>G (p.His700Gln)
11g.130208515C>TCA477549746ST14c.2100C>T (p.His700=)
11g.130208516C>ACA383323044ST14c.2101C>A (p.Pro701Thr)
11g.130208516C>GCA383323046ST14c.2101C>G (p.Pro701Ala)
11g.130208516C>TCA383323048ST14c.2101C>T (p.Pro701Ser)
11g.130208517C>ACA383323050ST14c.2102C>A (p.Pro701His)
gnomAD v4
11g.130208517C>GCA383323052ST14c.2102C>G (p.Pro701Arg)
11g.130208517C>TCA383323054ST14c.2102C>T (p.Pro701Leu)
gnomAD v4
11g.130208517_130208520delinsCCTTCA2008889907ST14c.2102_2105delinsCCTT (p.Pro701=)
11g.130208518C>ACA477549751ST14c.2103C>A (p.Pro701=)
11g.130208518C=CA2008889917ST14c.2103C= (p.Pro701=)
11g.130208518C>GCA477549752ST14c.2103C>G (p.Pro701=)
11g.130208518C>TCA477549753ST14c.2103C>T (p.Pro701=)
dbSNP
11g.130208522_130208524delCA6364304ST14c.2107_2109del (p.Phe703del)
dbSNP ExAC gnomAD v2
11g.130208519T>ACA383323057ST14c.2104T>A (p.Phe702Ile)
11g.130208519T>CCA383323059ST14c.2104T>C (p.Phe702Leu)
11g.130208519T>GCA383323061ST14c.2104T>G (p.Phe702Val)
11g.130208520T>ACA383323065ST14c.2105T>A (p.Phe702Tyr)
11g.130208520T>CCA383323066ST14c.2105T>C (p.Phe702Ser)
11g.130208520T>GCA383323063ST14c.2105T>G (p.Phe702Cys)
11g.130208521C>ACA383323068ST14c.2106C>A (p.Phe702Leu)
ClinVar
11g.130208521C>GCA383323070ST14c.2106C>G (p.Phe702Leu)
11g.130208521C>TCA477549760ST14c.2106C>T (p.Phe702=)
11g.130208522T>ACA383323072ST14c.2107T>A (p.Phe703Ile)
11g.130208522T>CCA383323073ST14c.2107T>C (p.Phe703Leu)
11g.130208522T>GCA383323075ST14c.2107T>G (p.Phe703Val)
11g.130208523T>ACA383323077ST14c.2108T>A (p.Phe703Tyr)
11g.130208523T>CCA383323079ST14c.2108T>C (p.Phe703Ser)
11g.130208523T>GCA383323080ST14c.2108T>G (p.Phe703Cys)
11g.130208524C>ACA383323082ST14c.2109C>A (p.Phe703Leu)
11g.130208524C>GCA383323084ST14c.2109C>G (p.Phe703Leu)
11g.130208524C>TCA477549765ST14c.2109C>T (p.Phe703=)
COSMIC
11g.130208525A>CCA383323087ST14c.2110A>C (p.Asn704His)
11g.130208525A>GCA383323088ST14c.2110A>G (p.Asn704Asp)
11g.130208525A>TCA383323090ST14c.2110A>T (p.Asn704Tyr)
11g.130208526A=CA2008889924ST14c.2111A= (p.Asn704=)
11g.130208526A>CCA383323096ST14c.2111A>C (p.Asn704Thr)
11g.130208526A>GCA383323094ST14c.2111A>G (p.Asn704Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.130208526A>TCA383323092ST14c.2111A>T (p.Asn704Ile)
11g.130208527T>ACA6364305ST14c.2112T>A (p.Asn704Lys)
dbSNP ExAC gnomAD v3 gnomAD v4
11g.130208527T>CCA477549772ST14c.2112T>C (p.Asn704=)
11g.130208527T>GCA383323099ST14c.2112T>G (p.Asn704Lys)
11g.130208527T=CA2008889931ST14c.2112T= (p.Asn704=)
11g.130208528G>ACA383323100ST14c.2113G>A (p.Asp705Asn)
11g.130208528G>CCA383323101ST14c.2113G>C (p.Asp705His)
11g.130208528G>TCA383323102ST14c.2113G>T (p.Asp705Tyr)
11g.130208529A>CCA383323103ST14c.2114A>C (p.Asp705Ala)
11g.130208529A>GCA383323104ST14c.2114A>G (p.Asp705Gly)
11g.130208529A>TCA383323105ST14c.2114A>T (p.Asp705Val)
11g.130208530C>ACA383323106ST14c.2115C>A (p.Asp705Glu)
11g.130208530C=CA2008889933ST14c.2115C= (p.Asp705=)
11g.130208530C>GCA383323107ST14c.2115C>G (p.Asp705Glu)
gnomAD v4
11g.130208530C>TCA6364306ST14c.2115C>T (p.Asp705=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208531T>ACA383323108ST14c.2116T>A (p.Phe706Ile)
11g.130208531T>CCA383323109ST14c.2116T>C (p.Phe706Leu)
11g.130208531T>GCA383323110ST14c.2116T>G (p.Phe706Val)
11g.130208532T>ACA383323112ST14c.2117T>A (p.Phe706Tyr)
11g.130208532T>CCA383323113ST14c.2117T>C (p.Phe706Ser)
11g.130208532T>GCA383323111ST14c.2117T>G (p.Phe706Cys)
11g.130208533C>ACA383323114ST14c.2118C>A (p.Phe706Leu)
11g.130208533C>GCA383323115ST14c.2118C>G (p.Phe706Leu)
11g.130208533C>TCA477549783ST14c.2118C>T (p.Phe706=)
11g.130208534A>CCA383323116ST14c.2119A>C (p.Thr707Pro)
11g.130208534A>GCA383323117ST14c.2119A>G (p.Thr707Ala)
11g.130208534A>TCA383323118ST14c.2119A>T (p.Thr707Ser)
11g.130208535C>ACA383323120ST14c.2120C>A (p.Thr707Asn)
dbSNP
11g.130208535C=CA2008889936ST14c.2120C= (p.Thr707=)
11g.130208535C>GCA383323119ST14c.2120C>G (p.Thr707Ser)
11g.130208535C>TCA6364307ST14c.2120C>T (p.Thr707Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.130208536C>ACA477549788ST14c.2121C>A (p.Thr707=)
11g.130208536C>GCA477549789ST14c.2121C>G (p.Thr707=)
11g.130208536C>TCA477549791ST14c.2121C>T (p.Thr707=)
gnomAD v4
11g.130208537T>ACA383323121ST14c.2122T>A (p.Phe708Ile)
11g.130208537T>CCA383323122ST14c.2122T>C (p.Phe708Leu)
11g.130208537T>GCA383323123ST14c.2122T>G (p.Phe708Val)
11g.130208538T>ACA383323124ST14c.2123T>A (p.Phe708Tyr)
11g.130208538T>CCA383323125ST14c.2123T>C (p.Phe708Ser)
11g.130208538T>GCA383323126ST14c.2123T>G (p.Phe708Cys)
11g.130208539C>ACA383323127ST14c.2124C>A (p.Phe708Leu)
gnomAD v4
11g.130208539C=CA2008889939ST14c.2124C= (p.Phe708=)
11g.130208539C>GCA383323128ST14c.2124C>G (p.Phe708Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.130208539C>TCA6364308ST14c.2124C>T (p.Phe708=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.130208540G>ACA383323129ST14c.2125G>A (p.Asp709Asn)
dbSNP gnomAD v4
11g.130208540G>CCA383323130ST14c.2125G>C (p.Asp709His)
11g.130208540G=CA2008889941ST14c.2125G= (p.Asp709=)
11g.130208540G>TCA383323131ST14c.2125G>T (p.Asp709Tyr)
dbSNP gnomAD v2
11g.130208541A>CCA383323132ST14c.2126A>C (p.Asp709Ala)
11g.130208541A>GCA383323133ST14c.2126A>G (p.Asp709Gly)
11g.130208541A>TCA383323134ST14c.2126A>T (p.Asp709Val)
11g.130208542C>ACA383323135ST14c.2127C>A (p.Asp709Glu)
11g.130208542C>GCA383323136ST14c.2127C>G (p.Asp709Glu)
11g.130208542C>TCA477549801ST14c.2127C>T (p.Asp709=)
11g.130208543T>ACA383323137ST14c.2128T>A (p.Tyr710Asn)
11g.130208543T>CCA383323138ST14c.2128T>C (p.Tyr710His)
11g.130208543T>GCA383323139ST14c.2128T>G (p.Tyr710Asp)
11g.130208544A=CA2008889946ST14c.2129A= (p.Tyr710=)
11g.130208544A>CCA383323141ST14c.2129A>C (p.Tyr710Ser)
gnomAD v4
11g.130208544A>GCA383323142ST14c.2129A>G (p.Tyr710Cys)
dbSNP gnomAD v2 gnomAD v4
11g.130208544A>TCA383323140ST14c.2129A>T (p.Tyr710Phe)
11g.130208545T>ACA383323144ST14c.2130T>A (p.Tyr710Ter)
11g.130208545T>CCA477549805ST14c.2130T>C (p.Tyr710=)
11g.130208545T>GCA383323143ST14c.2130T>G (p.Tyr710Ter)
11g.130208546G>ACA383323147ST14c.2131G>A (p.Asp711Asn)
11g.130208546G>CCA383323145ST14c.2131G>C (p.Asp711His)
11g.130208546G>TCA383323146ST14c.2131G>T (p.Asp711Tyr)
11g.130208547A>CCA383323148ST14c.2132A>C (p.Asp711Ala)
11g.130208547A>GCA383323149ST14c.2132A>G (p.Asp711Gly)
11g.130208547A>TCA383323150ST14c.2132A>T (p.Asp711Val)
11g.130208548C>ACA383323151ST14c.2133C>A (p.Asp711Glu)
11g.130208548C=CA2008889949ST14c.2133C= (p.Asp711=)
11g.130208548C>GCA383323152ST14c.2133C>G (p.Asp711Glu)
11g.130208548C>TCA230707095ST14c.2133C>T (p.Asp711=)
dbSNP gnomAD v3 gnomAD v4
11g.130208549A=CA2008889955ST14c.2134A= (p.Ile712=)
11g.130208549A>CCA383323153ST14c.2134A>C (p.Ile712Leu)
11g.130208549A>GCA383323154ST14c.2134A>G (p.Ile712Val)
dbSNP
11g.130208549A>TCA383323155ST14c.2134A>T (p.Ile712Phe)

Number of alleles fetched