12 | g.76346016T>A | CA385808707 | BBS10 | c.1969A>T (p.Thr657Ser)
| |
12 | g.76346016T>C | CA6694070 | BBS10 | c.1969A>G (p.Thr657Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346016T>G | CA385808709 | BBS10 | c.1969A>C (p.Thr657Pro)
| |
12 | g.76346016T= | CA2047353115 | BBS10 | c.1969A= (p.Thr657=)
| |
12 | g.76346016dup | CA606185889 | BBS10 | c.1969dup (p.Thr657AsnfsTer28)
| gnomAD v2 gnomAD v4 |
12 | g.76346017A>C | CA385808710 | BBS10 | c.1968T>G (p.His656Gln)
| |
12 | g.76346017A>G | CA481011020 | BBS10 | c.1968T>C (p.His656=)
| |
12 | g.76346017A>T | CA385808712 | BBS10 | c.1968T>A (p.His656Gln)
| |
12 | g.76346018del | CA2695217030 | BBS10 | c.1967del (p.His656LeufsTer4)
| |
12 | g.76346018T>A | CA385808715 | BBS10 | c.1967A>T (p.His656Leu)
| |
12 | g.76346018T>C | CA385808716 | BBS10 | c.1967A>G (p.His656Arg)
| dbSNP |
12 | g.76346018T>G | CA385808717 | BBS10 | c.1967A>C (p.His656Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346018T= | CA2047353116 | BBS10 | c.1967A= (p.His656=)
| |
12 | g.76346021_76346030del | CA2695217029 | BBS10 | c.1958_1967del (p.Ser653IlefsTer4)
| |
12 | g.76346019G>A | CA6694071 | BBS10 | c.1966C>T (p.His656Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346019G>C | CA385808719 | BBS10 | c.1966C>G (p.His656Asp)
| |
12 | g.76346019G= | CA2047353117 | BBS10 | c.1966C= (p.His656=)
| |
12 | g.76346019G>T | CA385808722 | BBS10 | c.1966C>A (p.His656Asn)
| |
12 | g.76346020T>A | CA481011023 | BBS10 | c.1965A>T (p.Pro655=)
| |
12 | g.76346020T>C | CA481011024 | BBS10 | c.1965A>G (p.Pro655=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346020T>G | CA481011025 | BBS10 | c.1965A>C (p.Pro655=)
| |
12 | g.76346020T= | CA2047353118 | BBS10 | c.1965A= (p.Pro655=)
| |
12 | g.76346021G>A | CA6694072 | BBS10 | c.1964C>T (p.Pro655Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346021G>C | CA385808727 | BBS10 | c.1964C>G (p.Pro655Arg)
| |
12 | g.76346021G= | CA2047353119 | BBS10 | c.1964C= (p.Pro655=)
| |
12 | g.76346021G>T | CA385808730 | BBS10 | c.1964C>A (p.Pro655Gln)
| gnomAD v4 |
12 | g.76346022G>A | CA239331491 | BBS10 | c.1963C>T (p.Pro655Ser)
| dbSNP |
12 | g.76346022G>C | CA385808733 | BBS10 | c.1963C>G (p.Pro655Ala)
| |
12 | g.76346022G= | CA2047353120 | BBS10 | c.1963C= (p.Pro655=)
| |
12 | g.76346022G>T | CA385808736 | BBS10 | c.1963C>A (p.Pro655Thr)
| |
12 | g.76346023A>C | CA385808741 | BBS10 | c.1962T>G (p.Phe654Leu)
| |
12 | g.76346023A>G | CA481011029 | BBS10 | c.1962T>C (p.Phe654=)
| |
12 | g.76346023A>T | CA385808739 | BBS10 | c.1962T>A (p.Phe654Leu)
| |
12 | g.76346024A>C | CA385808745 | BBS10 | c.1961T>G (p.Phe654Cys)
| |
12 | g.76346024A>G | CA385808747 | BBS10 | c.1961T>C (p.Phe654Ser)
| |
12 | g.76346024A>T | CA385808750 | BBS10 | c.1961T>A (p.Phe654Tyr)
| |
12 | g.76346025A>C | CA385808753 | BBS10 | c.1960T>G (p.Phe654Val)
| |
12 | g.76346025A>G | CA385808756 | BBS10 | c.1960T>C (p.Phe654Leu)
| |
12 | g.76346025A>T | CA385808758 | BBS10 | c.1960T>A (p.Phe654Ile)
| |
12 | g.76346025_76346026delinsAG | CA2047353121 | BBS10 | c.1959_1960delinsCT (p.Ser653=)
| |
12 | g.76346026del | CA16041575 | BBS10 | c.1959del (p.Pro655HisfsTer5)
| ClinVar dbSNP |
12 | g.76346026G>A | CA6694073 | BBS10 | c.1959C>T (p.Ser653=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346026G>C | CA385808763 | BBS10 | c.1959C>G (p.Ser653Arg)
| |
12 | g.76346026G= | CA2047353122 | BBS10 | c.1959C= (p.Ser653=)
| |
12 | g.76346026G>T | CA385808767 | BBS10 | c.1959C>A (p.Ser653Arg)
| |
12 | g.76346027C>A | CA385808773 | BBS10 | c.1958G>T (p.Ser653Ile)
| |
12 | g.76346027C>G | CA385808775 | BBS10 | c.1958G>C (p.Ser653Thr)
| |
12 | g.76346027C>T | CA385808778 | BBS10 | c.1958G>A (p.Ser653Asn)
| |
12 | g.76346028T>A | CA385808788 | BBS10 | c.1957A>T (p.Ser653Cys)
| |
12 | g.76346028T>C | CA385808789 | BBS10 | c.1957A>G (p.Ser653Gly)
| |
12 | g.76346028T>G | CA385808785 | BBS10 | c.1957A>C (p.Ser653Arg)
| |
12 | g.76346029del | CA2619945586 | BBS10 | c.1956del (p.Tyr652Ter)
| gnomAD v4 |
12 | g.76346029G>A | CA481011034 | BBS10 | c.1956C>T (p.Tyr652=)
| ClinVar dbSNP |
12 | g.76346029G>C | CA385808798 | BBS10 | c.1956C>G (p.Tyr652Ter)
| ClinVar |
12 | g.76346029G= | CA2047353123 | BBS10 | c.1956C= (p.Tyr652=)
| |
12 | g.76346029G>T | CA385808795 | BBS10 | c.1956C>A (p.Tyr652Ter)
| |
12 | g.76346030T>A | CA385808802 | BBS10 | c.1955A>T (p.Tyr652Phe)
| |
12 | g.76346030T>C | CA385808805 | BBS10 | c.1955A>G (p.Tyr652Cys)
| gnomAD v4 |
12 | g.76346030T>G | CA385808806 | BBS10 | c.1955A>C (p.Tyr652Ser)
| |
12 | g.76346031A= | CA2047353124 | BBS10 | c.1954T= (p.Tyr652=)
| |
12 | g.76346031A>C | CA385808807 | BBS10 | c.1954T>G (p.Tyr652Asp)
| |
12 | g.76346031A>G | CA6694074 | BBS10 | c.1954T>C (p.Tyr652His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346031A>T | CA385808809 | BBS10 | c.1954T>A (p.Tyr652Asn)
| |
12 | g.76346032C>A | CA385808812 | BBS10 | c.1953G>T (p.Lys651Asn)
| |
12 | g.76346032C= | CA2047353125 | BBS10 | c.1953G= (p.Lys651=)
| |
12 | g.76346032C>G | CA385808814 | BBS10 | c.1953G>C (p.Lys651Asn)
| |
12 | g.76346032C>T | CA481011044 | BBS10 | c.1953G>A (p.Lys651=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346032_76346033del | CA912974180 | BBS10 | c.1952_1953del (p.Lys651IlefsTer?)
| |
12 | g.76346032_76346033delinsCT | CA2047353126 | BBS10 | c.1952_1953delinsAG (p.Lys651=)
| |
12 | g.76346033T>A | CA385808818 | BBS10 | c.1952A>T (p.Lys651Met)
| |
12 | g.76346033T>C | CA385808819 | BBS10 | c.1952A>G (p.Lys651Arg)
| |
12 | g.76346033T>G | CA385808822 | BBS10 | c.1952A>C (p.Lys651Thr)
| |
12 | g.76346035del | CA658823422 | BBS10 | c.1952del (p.Lys651SerfsTer9)
| ClinVar dbSNP |
12 | g.76346034T>A | CA385808831 | BBS10 | c.1951A>T (p.Lys651Ter)
| |
12 | g.76346034T>C | CA385808828 | BBS10 | c.1951A>G (p.Lys651Glu)
| gnomAD v4 |
12 | g.76346034T>G | CA385808825 | BBS10 | c.1951A>C (p.Lys651Gln)
| |
12 | g.76346035T>A | CA481011046 | BBS10 | c.1950A>T (p.Gly650=)
| |
12 | g.76346035T>C | CA481011047 | BBS10 | c.1950A>G (p.Gly650=)
| gnomAD v4 |
12 | g.76346035T>G | CA481011048 | BBS10 | c.1950A>C (p.Gly650=)
| ClinVar dbSNP |
12 | g.76346035T= | CA2047353128 | BBS10 | c.1950A= (p.Gly650=)
| |
12 | g.76346035_76346036del | CA912974181 | BBS10 | c.1949_1950del (p.Gly650GlufsTer?)
| |
12 | g.76346035_76346036delinsTC | CA2047353127 | BBS10 | c.1949_1950delinsGA (p.Gly650=)
| |
12 | g.76346036C>A | CA385808835 | BBS10 | c.1949G>T (p.Gly650Val)
| |
12 | g.76346036C>G | CA385808837 | BBS10 | c.1949G>C (p.Gly650Ala)
| |
12 | g.76346036C>T | CA385808843 | BBS10 | c.1949G>A (p.Gly650Glu)
| |
12 | g.76346037del | CA6694075 | BBS10 | c.1949del (p.Gly650GlufsTer10)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346037C>A | CA385808847 | BBS10 | c.1948G>T (p.Gly650Ter)
| |
12 | g.76346037C= | CA2047353129 | BBS10 | c.1948G= (p.Gly650=)
| |
12 | g.76346037C>G | CA385808854 | BBS10 | c.1948G>C (p.Gly650Arg)
| |
12 | g.76346037C>T | CA6694076 | BBS10 | c.1948G>A (p.Gly650Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346038T>A | CA481011054 | BBS10 | c.1947A>T (p.Thr649=)
| |
12 | g.76346038T>C | CA481011055 | BBS10 | c.1947A>G (p.Thr649=)
| ClinVar dbSNP |
12 | g.76346038T>G | CA481011056 | BBS10 | c.1947A>C (p.Thr649=)
| |
12 | g.76346039G>A | CA385808860 | BBS10 | c.1946C>T (p.Thr649Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346039G>C | CA6694077 | BBS10 | c.1946C>G (p.Thr649Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346039G= | CA2047353130 | BBS10 | c.1946C= (p.Thr649=)
| |
12 | g.76346039G>T | CA385808862 | BBS10 | c.1946C>A (p.Thr649Lys)
| |
12 | g.76346040T>A | CA385808865 | BBS10 | c.1945A>T (p.Thr649Ser)
| |
12 | g.76346040T>C | CA385808866 | BBS10 | c.1945A>G (p.Thr649Ala)
| |
12 | g.76346040T>G | CA385808868 | BBS10 | c.1945A>C (p.Thr649Pro)
| |
12 | g.76346041T>A | CA385808870 | BBS10 | c.1944A>T (p.Lys648Asn)
| |
12 | g.76346041T>C | CA481011060 | BBS10 | c.1944A>G (p.Lys648=)
| ClinVar |
12 | g.76346041T>G | CA385808872 | BBS10 | c.1944A>C (p.Lys648Asn)
| |
12 | g.76346042T>A | CA239331513 | BBS10 | c.1943A>T (p.Lys648Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346042T>C | CA385808875 | BBS10 | c.1943A>G (p.Lys648Arg)
| |
12 | g.76346042T>G | CA385808876 | BBS10 | c.1943A>C (p.Lys648Thr)
| |
12 | g.76346042T= | CA2047353131 | BBS10 | c.1943A= (p.Lys648=)
| |
12 | g.76346043T>A | CA385808877 | BBS10 | c.1942A>T (p.Lys648Ter)
| |
12 | g.76346043T>C | CA385808878 | BBS10 | c.1942A>G (p.Lys648Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346043T>G | CA385808880 | BBS10 | c.1942A>C (p.Lys648Gln)
| |
12 | g.76346043T= | CA2047353132 | BBS10 | c.1942A= (p.Lys648=)
| |
12 | g.76346044A= | CA2047353133 | BBS10 | c.1941T= (p.Ser647=)
| |
12 | g.76346044A>C | CA6694078 | BBS10 | c.1941T>G (p.Ser647=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346044A>G | CA481011064 | BBS10 | c.1941T>C (p.Ser647=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346044A>T | CA481011065 | BBS10 | c.1941T>A (p.Ser647=)
| |
12 | g.76346045G>A | CA385808894 | BBS10 | c.1940C>T (p.Ser647Phe)
| |
12 | g.76346045G>C | CA385808896 | BBS10 | c.1940C>G (p.Ser647Cys)
| |
12 | g.76346045G>T | CA385808897 | BBS10 | c.1940C>A (p.Ser647Tyr)
| |
12 | g.76346046A= | CA2047353134 | BBS10 | c.1939T= (p.Ser647=)
| |
12 | g.76346046A>C | CA239331520 | BBS10 | c.1939T>G (p.Ser647Ala)
| dbSNP gnomAD v4 |
12 | g.76346046A>G | CA385808902 | BBS10 | c.1939T>C (p.Ser647Pro)
| |
12 | g.76346046A>T | CA385808903 | BBS10 | c.1939T>A (p.Ser647Thr)
| gnomAD v4 |
12 | g.76346047T>A | CA385808908 | BBS10 | c.1938A>T (p.Lys646Asn)
| |
12 | g.76346047T>C | CA481011068 | BBS10 | c.1938A>G (p.Lys646=)
| |
12 | g.76346047T>G | CA385808905 | BBS10 | c.1938A>C (p.Lys646Asn)
| dbSNP |
12 | g.76346047T= | CA2047353135 | BBS10 | c.1938A= (p.Lys646=)
| |
12 | g.76346048T>A | CA385808911 | BBS10 | c.1937A>T (p.Lys646Ile)
| gnomAD v4 |
12 | g.76346048T>C | CA385808913 | BBS10 | c.1937A>G (p.Lys646Arg)
| dbSNP gnomAD v4 |
12 | g.76346048T>G | CA385808921 | BBS10 | c.1937A>C (p.Lys646Thr)
| |
12 | g.76346048T= | CA2047353136 | BBS10 | c.1937A= (p.Lys646=)
| |
12 | g.76346049T>A | CA385808924 | BBS10 | c.1936A>T (p.Lys646Ter)
| |
12 | g.76346049T>C | CA6694079 | BBS10 | c.1936A>G (p.Lys646Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346049T>G | CA385808928 | BBS10 | c.1936A>C (p.Lys646Gln)
| |
12 | g.76346049T= | CA2047353137 | BBS10 | c.1936A= (p.Lys646=)
| |
12 | g.76346050A>C | CA385808930 | BBS10 | c.1935T>G (p.Tyr645Ter)
| |
12 | g.76346050A>G | CA481011072 | BBS10 | c.1935T>C (p.Tyr645=)
| |
12 | g.76346050A>T | CA385808931 | BBS10 | c.1935T>A (p.Tyr645Ter)
| |
12 | g.76346051T>A | CA385808935 | BBS10 | c.1934A>T (p.Tyr645Phe)
| |
12 | g.76346051T>C | CA385808937 | BBS10 | c.1934A>G (p.Tyr645Cys)
| gnomAD v4 |
12 | g.76346051T>G | CA385808939 | BBS10 | c.1934A>C (p.Tyr645Ser)
| |
12 | g.76346052A>C | CA385808944 | BBS10 | c.1933T>G (p.Tyr645Asp)
| |
12 | g.76346052A>G | CA385808946 | BBS10 | c.1933T>C (p.Tyr645His)
| |
12 | g.76346052A>T | CA385808949 | BBS10 | c.1933T>A (p.Tyr645Asn)
| |
12 | g.76346053A>C | CA481011077 | BBS10 | c.1932T>G (p.Leu644=)
| |
12 | g.76346053A>G | CA481011078 | BBS10 | c.1932T>C (p.Leu644=)
| |
12 | g.76346053A>T | CA481011079 | BBS10 | c.1932T>A (p.Leu644=)
| |
12 | g.76346054A>C | CA385808958 | BBS10 | c.1931T>G (p.Leu644Arg)
| |
12 | g.76346054A>G | CA385808954 | BBS10 | c.1931T>C (p.Leu644Pro)
| |
12 | g.76346054A>T | CA385808952 | BBS10 | c.1931T>A (p.Leu644His)
| |
12 | g.76346055G>A | CA385808963 | BBS10 | c.1930C>T (p.Leu644Phe)
| ClinVar gnomAD v4 |
12 | g.76346055G>C | CA385808961 | BBS10 | c.1930C>G (p.Leu644Val)
| gnomAD v4 |
12 | g.76346055G>T | CA385808967 | BBS10 | c.1930C>A (p.Leu644Ile)
| |
12 | g.76346056G>A | CA6694080 | BBS10 | c.1929C>T (p.Val643=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346056G>C | CA481011085 | BBS10 | c.1929C>G (p.Val643=)
| |
12 | g.76346056G= | CA2047353138 | BBS10 | c.1929C= (p.Val643=)
| |
12 | g.76346056G>T | CA481011087 | BBS10 | c.1929C>A (p.Val643=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346057A= | CA2047353139 | BBS10 | c.1928T= (p.Val643=)
| |
12 | g.76346057A>C | CA385808972 | BBS10 | c.1928T>G (p.Val643Gly)
| |
12 | g.76346057A>G | CA385808976 | BBS10 | c.1928T>C (p.Val643Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346057A>T | CA385808978 | BBS10 | c.1928T>A (p.Val643Asp)
| |
12 | g.76346058C>A | CA385808979 | BBS10 | c.1927G>T (p.Val643Phe)
| |
12 | g.76346058C= | CA2047353140 | BBS10 | c.1927G= (p.Val643=)
| |
12 | g.76346058C>G | CA385808980 | BBS10 | c.1927G>C (p.Val643Leu)
| |
12 | g.76346058C>T | CA6694081 | BBS10 | c.1927G>A (p.Val643Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346059T>A | CA385808982 | BBS10 | c.1926A>T (p.Lys642Asn)
| |
12 | g.76346059T>C | CA481011100 | BBS10 | c.1926A>G (p.Lys642=)
| |
12 | g.76346059T>G | CA385808983 | BBS10 | c.1926A>C (p.Lys642Asn)
| |
12 | g.76346060T>A | CA385808987 | BBS10 | c.1925A>T (p.Lys642Ile)
| |
12 | g.76346060T>C | CA6694082 | BBS10 | c.1925A>G (p.Lys642Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346060T>G | CA385808990 | BBS10 | c.1925A>C (p.Lys642Thr)
| |
12 | g.76346060T= | CA2047353141 | BBS10 | c.1925A= (p.Lys642=)
| |
12 | g.76346061T>A | CA385808995 | BBS10 | c.1924A>T (p.Lys642Ter)
| |
12 | g.76346061T>C | CA385808996 | BBS10 | c.1924A>G (p.Lys642Glu)
| |
12 | g.76346061T>G | CA385808993 | BBS10 | c.1924A>C (p.Lys642Gln)
| |
12 | g.76346062G>A | CA6694083 | BBS10 | c.1923C>T (p.Pro641=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346062G>C | CA481011107 | BBS10 | c.1923C>G (p.Pro641=)
| dbSNP |
12 | g.76346062G= | CA2047353142 | BBS10 | c.1923C= (p.Pro641=)
| |
12 | g.76346062G>T | CA481011108 | BBS10 | c.1923C>A (p.Pro641=)
| |
12 | g.76346063G>A | CA385809001 | BBS10 | c.1922C>T (p.Pro641Leu)
| gnomAD v4 |
12 | g.76346063G>C | CA385809003 | BBS10 | c.1922C>G (p.Pro641Arg)
| |
12 | g.76346063G>T | CA385809006 | BBS10 | c.1922C>A (p.Pro641His)
| |
12 | g.76346064G>A | CA385809014 | BBS10 | c.1921C>T (p.Pro641Ser)
| |
12 | g.76346064G>C | CA385809011 | BBS10 | c.1921C>G (p.Pro641Ala)
| |
12 | g.76346064G>T | CA385809009 | BBS10 | c.1921C>A (p.Pro641Thr)
| gnomAD v4 |
12 | g.76346065A>C | CA385809018 | BBS10 | c.1920T>G (p.Ile640Met)
| |
12 | g.76346065A>G | CA481011114 | BBS10 | c.1920T>C (p.Ile640=)
| |
12 | g.76346065A>T | CA481011115 | BBS10 | c.1920T>A (p.Ile640=)
| gnomAD v4 |
12 | g.76346066A>C | CA385809020 | BBS10 | c.1919T>G (p.Ile640Ser)
| |
12 | g.76346066A>G | CA385809023 | BBS10 | c.1919T>C (p.Ile640Thr)
| |
12 | g.76346066A>T | CA385809025 | BBS10 | c.1919T>A (p.Ile640Asn)
| |
12 | g.76346067T>A | CA385809030 | BBS10 | c.1918A>T (p.Ile640Phe)
| COSMIC |
12 | g.76346067T>C | CA6694084 | BBS10 | c.1918A>G (p.Ile640Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346067T>G | CA385809034 | BBS10 | c.1918A>C (p.Ile640Leu)
| gnomAD v4 |
12 | g.76346067T= | CA2047353143 | BBS10 | c.1918A= (p.Ile640=)
| |
12 | g.76346068G>A | CA481011121 | BBS10 | c.1917C>T (p.Gly639=)
| |
12 | g.76346068G>C | CA6694085 | BBS10 | c.1917C>G (p.Gly639=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346068G= | CA2047353144 | BBS10 | c.1917C= (p.Gly639=)
| |
12 | g.76346068G>T | CA481011126 | BBS10 | c.1917C>A (p.Gly639=)
| |
12 | g.76346069C>A | CA385809046 | BBS10 | c.1916G>T (p.Gly639Val)
| |
12 | g.76346069C>G | CA385809041 | BBS10 | c.1916G>C (p.Gly639Ala)
| |
12 | g.76346069C>T | CA385809044 | BBS10 | c.1916G>A (p.Gly639Asp)
| gnomAD v4 |
12 | g.76346070C>A | CA385809048 | BBS10 | c.1915G>T (p.Gly639Cys)
| |
12 | g.76346070C= | CA2047353145 | BBS10 | c.1915G= (p.Gly639=)
| |
12 | g.76346070C>G | CA385809051 | BBS10 | c.1915G>C (p.Gly639Arg)
| |
12 | g.76346070C>T | CA385809052 | BBS10 | c.1915G>A (p.Gly639Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346071_76346079del | CA2796591352 | BBS10 | c.1907_1915del (p.Ala636_Leu638del)
| |
12 | g.76346071T>A | CA385809056 | BBS10 | c.1914A>T (p.Leu638Phe)
| |
12 | g.76346071T>C | CA481011134 | BBS10 | c.1914A>G (p.Leu638=)
| |
12 | g.76346071T>G | CA385809058 | BBS10 | c.1914A>C (p.Leu638Phe)
| |
12 | g.76346072A= | CA2047353146 | BBS10 | c.1913T= (p.Leu638=)
| |
12 | g.76346072A>C | CA385809065 | BBS10 | c.1913T>G (p.Leu638Ter)
| |
12 | g.76346072A>G | CA385809060 | BBS10 | c.1913T>C (p.Leu638Ser)
| dbSNP |
12 | g.76346072A>T | CA385809063 | BBS10 | c.1913T>A (p.Leu638Ter)
| |
12 | g.76346073A= | CA2047353147 | BBS10 | c.1912T= (p.Leu638=)
| |
12 | g.76346073A>C | CA385809068 | BBS10 | c.1912T>G (p.Leu638Val)
| gnomAD v4 |
12 | g.76346073A>G | CA481011136 | BBS10 | c.1912T>C (p.Leu638=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346073A>T | CA385809069 | BBS10 | c.1912T>A (p.Leu638Ile)
| |
12 | g.76346074A>C | CA481011142 | BBS10 | c.1911T>G (p.Leu637=)
| |
12 | g.76346074A>G | CA481011140 | BBS10 | c.1911T>C (p.Leu637=)
| |
12 | g.76346074A>T | CA481011138 | BBS10 | c.1911T>A (p.Leu637=)
| |
12 | g.76346075A= | CA2047353148 | BBS10 | c.1910T= (p.Leu637=)
| |
12 | g.76346075A>C | CA385809071 | BBS10 | c.1910T>G (p.Leu637Arg)
| dbSNP |
12 | g.76346075A>G | CA385809073 | BBS10 | c.1910T>C (p.Leu637Pro)
| |
12 | g.76346075A>T | CA385809075 | BBS10 | c.1910T>A (p.Leu637His)
| |
12 | g.76346076G>A | CA385809078 | BBS10 | c.1909C>T (p.Leu637Phe)
| dbSNP gnomAD v3 |
12 | g.76346076G>C | CA385809080 | BBS10 | c.1909C>G (p.Leu637Val)
| ClinVar dbSNP |
12 | g.76346076G= | CA2047353149 | BBS10 | c.1909C= (p.Leu637=)
| |
12 | g.76346076G>T | CA6694086 | BBS10 | c.1909C>A (p.Leu637Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346077T>A | CA481011147 | BBS10 | c.1908A>T (p.Ala636=)
| |
12 | g.76346077T>C | CA481011151 | BBS10 | c.1908A>G (p.Ala636=)
| |
12 | g.76346077T>G | CA481011155 | BBS10 | c.1908A>C (p.Ala636=)
| |
12 | g.76346078G>A | CA239331547 | BBS10 | c.1907C>T (p.Ala636Val)
| ClinVar dbSNP |
12 | g.76346078G>C | CA385809083 | BBS10 | c.1907C>G (p.Ala636Gly)
| |
12 | g.76346078G= | CA2047353150 | BBS10 | c.1907C= (p.Ala636=)
| |
12 | g.76346078G>T | CA385809085 | BBS10 | c.1907C>A (p.Ala636Glu)
| |
12 | g.76346079C>A | CA385809087 | BBS10 | c.1906G>T (p.Ala636Ser)
| |
12 | g.76346079C= | CA2047353151 | BBS10 | c.1906G= (p.Ala636=)
| |
12 | g.76346079C>G | CA385809089 | BBS10 | c.1906G>C (p.Ala636Pro)
| |
12 | g.76346079C>T | CA385809093 | BBS10 | c.1906G>A (p.Ala636Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346080A>C | CA385809100 | BBS10 | c.1905T>G (p.Asn635Lys)
| |
12 | g.76346080A>G | CA481011164 | BBS10 | c.1905T>C (p.Asn635=)
| |
12 | g.76346080A>T | CA385809102 | BBS10 | c.1905T>A (p.Asn635Lys)
| |
12 | g.76346080_76346095del | CA2831039014 | BBS10 | c.1890_1905del (p.Ser630ArgfsTer4)
| |
12 | g.76346081T>A | CA385809103 | BBS10 | c.1904A>T (p.Asn635Ile)
| |
12 | g.76346081T>C | CA6694087 | BBS10 | c.1904A>G (p.Asn635Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346081T>G | CA385809109 | BBS10 | c.1904A>C (p.Asn635Thr)
| |
12 | g.76346081T= | CA2047353152 | BBS10 | c.1904A= (p.Asn635=)
| |
12 | g.76346082T>A | CA385809113 | BBS10 | c.1903A>T (p.Asn635Tyr)
| |
12 | g.76346082T>C | CA385809119 | BBS10 | c.1903A>G (p.Asn635Asp)
| dbSNP |
12 | g.76346082T>G | CA385809116 | BBS10 | c.1903A>C (p.Asn635His)
| |
12 | g.76346082T= | CA2047353153 | BBS10 | c.1903A= (p.Asn635=)
| |
12 | g.76346083A>C | CA481011168 | BBS10 | c.1902T>G (p.Ala634=)
| |
12 | g.76346083A>G | CA481011170 | BBS10 | c.1902T>C (p.Ala634=)
| |
12 | g.76346083A>T | CA481011171 | BBS10 | c.1902T>A (p.Ala634=)
| |
12 | g.76346084G>A | CA239331554 | BBS10 | c.1901C>T (p.Ala634Val)
| dbSNP |
12 | g.76346084G>C | CA385809125 | BBS10 | c.1901C>G (p.Ala634Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346084G= | CA2047353154 | BBS10 | c.1901C= (p.Ala634=)
| |
12 | g.76346084G>T | CA385809123 | BBS10 | c.1901C>A (p.Ala634Asp)
| |
12 | g.76346085C>A | CA385809128 | BBS10 | c.1900G>T (p.Ala634Ser)
| dbSNP |
12 | g.76346085C= | CA2047353155 | BBS10 | c.1900G= (p.Ala634=)
| |
12 | g.76346085C>G | CA385809130 | BBS10 | c.1900G>C (p.Ala634Pro)
| |
12 | g.76346085C>T | CA385809133 | BBS10 | c.1900G>A (p.Ala634Thr)
| dbSNP |
12 | g.76346086T>A | CA481011181 | BBS10 | c.1899A>T (p.Ile633=)
| ClinVar |
12 | g.76346086T>C | CA385809136 | BBS10 | c.1899A>G (p.Ile633Met)
| gnomAD v4 |
12 | g.76346086T>G | CA481011182 | BBS10 | c.1899A>C (p.Ile633=)
| |
12 | g.76346087A>C | CA385809141 | BBS10 | c.1898T>G (p.Ile633Arg)
| |
12 | g.76346087A>G | CA385809144 | BBS10 | c.1898T>C (p.Ile633Thr)
| |
12 | g.76346087A>T | CA385809147 | BBS10 | c.1898T>A (p.Ile633Lys)
| |
12 | g.76346088T>A | CA385809151 | BBS10 | c.1897A>T (p.Ile633Leu)
| |
12 | g.76346088T>C | CA385809152 | BBS10 | c.1897A>G (p.Ile633Val)
| |
12 | g.76346088T>G | CA385809153 | BBS10 | c.1897A>C (p.Ile633Leu)
| |
12 | g.76346088_76346093delinsTTATCA | CA2047353156 | BBS10 | c.1892_1897delinsTGATAA (p.Met631=)
| |
12 | g.76346089T>A | CA481011191 | BBS10 | c.1896A>T (p.Ile632=)
| |
12 | g.76346089T>C | CA385809154 | BBS10 | c.1896A>G (p.Ile632Met)
| ClinVar |
12 | g.76346089T>G | CA481011190 | BBS10 | c.1896A>C (p.Ile632=)
| |
12 | g.76346091_76346095del | CA691952349 | BBS10 | c.1892_1896del (p.Met631AsnfsTer3)
| ClinVar dbSNP |
12 | g.76346090A= | CA2047353157 | BBS10 | c.1895T= (p.Ile632=)
| |
12 | g.76346090A>C | CA385809157 | BBS10 | c.1895T>G (p.Ile632Arg)
| |
12 | g.76346090A>G | CA239331557 | BBS10 | c.1895T>C (p.Ile632Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346090A>T | CA385809156 | BBS10 | c.1895T>A (p.Ile632Lys)
| |
12 | g.76346091T>A | CA385809160 | BBS10 | c.1894A>T (p.Ile632Leu)
| |
12 | g.76346091T>C | CA385809167 | BBS10 | c.1894A>G (p.Ile632Val)
| |
12 | g.76346091T>G | CA385809171 | BBS10 | c.1894A>C (p.Ile632Leu)
| |
12 | g.76346092C>A | CA385809174 | BBS10 | c.1893G>T (p.Met631Ile)
| dbSNP gnomAD v4 |
12 | g.76346092C= | CA2047353158 | BBS10 | c.1893G= (p.Met631=)
| |
12 | g.76346092C>G | CA6694088 | BBS10 | c.1893G>C (p.Met631Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346092C>T | CA385809179 | BBS10 | c.1893G>A (p.Met631Ile)
| dbSNP |
12 | g.76346092_76346096del | CA2695217031 | BBS10 | c.1889_1893del (p.Ser630AsnfsTer4)
| |
12 | g.76346093A= | CA2047353159 | BBS10 | c.1892T= (p.Met631=)
| |
12 | g.76346093A>C | CA385809182 | BBS10 | c.1892T>G (p.Met631Arg)
| |
12 | g.76346093A>G | CA385809185 | BBS10 | c.1892T>C (p.Met631Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346093A>T | CA385809187 | BBS10 | c.1892T>A (p.Met631Lys)
| |
12 | g.76346094T>A | CA385809189 | BBS10 | c.1891A>T (p.Met631Leu)
| gnomAD v4 |
12 | g.76346094T>C | CA385809192 | BBS10 | c.1891A>G (p.Met631Val)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346094T>G | CA385809195 | BBS10 | c.1891A>C (p.Met631Leu)
| |
12 | g.76346094T= | CA2047353160 | BBS10 | c.1891A= (p.Met631=)
| |
12 | g.76346094dup | CA2619945588 | BBS10 | c.1891dup (p.Met631AsnfsTer5)
| gnomAD v4 |
12 | g.76346095A>C | CA385809202 | BBS10 | c.1890T>G (p.Ser630Arg)
| |
12 | g.76346095A>G | CA481011203 | BBS10 | c.1890T>C (p.Ser630=)
| |
12 | g.76346095A>T | CA385809199 | BBS10 | c.1890T>A (p.Ser630Arg)
| |
12 | g.76346096C>A | CA385809205 | BBS10 | c.1889G>T (p.Ser630Ile)
| |
12 | g.76346096C= | CA2047353161 | BBS10 | c.1889G= (p.Ser630=)
| |
12 | g.76346096C>G | CA385809209 | BBS10 | c.1889G>C (p.Ser630Thr)
| gnomAD v4 |
12 | g.76346096C>T | CA385809210 | BBS10 | c.1889G>A (p.Ser630Asn)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346097T>A | CA385809213 | BBS10 | c.1888A>T (p.Ser630Cys)
| |
12 | g.76346097T>C | CA385809216 | BBS10 | c.1888A>G (p.Ser630Gly)
| gnomAD v4 |
12 | g.76346097T>G | CA385809220 | BBS10 | c.1888A>C (p.Ser630Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346097T= | CA2047353162 | BBS10 | c.1888A= (p.Ser630=)
| |
12 | g.76346098A>C | CA481010598 | BBS10 | c.1887T>G (p.Val629=)
| |
12 | g.76346098A>G | CA481010599 | BBS10 | c.1887T>C (p.Val629=)
| |
12 | g.76346098A>T | CA481010600 | BBS10 | c.1887T>A (p.Val629=)
| gnomAD v4 |
12 | g.76346099A>C | CA385809223 | BBS10 | c.1886T>G (p.Val629Gly)
| |
12 | g.76346099A>G | CA385809226 | BBS10 | c.1886T>C (p.Val629Ala)
| |
12 | g.76346099A>T | CA385809229 | BBS10 | c.1886T>A (p.Val629Asp)
| |
12 | g.76346100C>A | CA385809232 | BBS10 | c.1885G>T (p.Val629Phe)
| |
12 | g.76346100C= | CA2047353163 | BBS10 | c.1885G= (p.Val629=)
| |
12 | g.76346100C>G | CA6694089 | BBS10 | c.1885G>C (p.Val629Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346100C>T | CA385809235 | BBS10 | c.1885G>A (p.Val629Ile)
| |
12 | g.76346101C>A | CA385809242 | BBS10 | c.1884G>T (p.Met628Ile)
| |
12 | g.76346101C>G | CA385809245 | BBS10 | c.1884G>C (p.Met628Ile)
| |
12 | g.76346101C>T | CA385809241 | BBS10 | c.1884G>A (p.Met628Ile)
| |
12 | g.76346102A>C | CA385809249 | BBS10 | c.1883T>G (p.Met628Arg)
| |
12 | g.76346102A>G | CA385809251 | BBS10 | c.1883T>C (p.Met628Thr)
| gnomAD v4 |
12 | g.76346102A>T | CA385809252 | BBS10 | c.1883T>A (p.Met628Lys)
| |
12 | g.76346103T>A | CA385809256 | BBS10 | c.1882A>T (p.Met628Leu)
| |
12 | g.76346103T>C | CA6694090 | BBS10 | c.1882A>G (p.Met628Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346103T>G | CA385809266 | BBS10 | c.1882A>C (p.Met628Leu)
| |
12 | g.76346103T= | CA2047353164 | BBS10 | c.1882A= (p.Met628=)
| |
12 | g.76346104G>A | CA481010609 | BBS10 | c.1881C>T (p.Thr627=)
| |
12 | g.76346104G>C | CA481010613 | BBS10 | c.1881C>G (p.Thr627=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346104G= | CA2047353165 | BBS10 | c.1881C= (p.Thr627=)
| |
12 | g.76346104G>T | CA481010622 | BBS10 | c.1881C>A (p.Thr627=)
| |
12 | g.76346105G>A | CA385809270 | BBS10 | c.1880C>T (p.Thr627Ile)
| |
12 | g.76346105G>C | CA385809275 | BBS10 | c.1880C>G (p.Thr627Ser)
| |
12 | g.76346105G= | CA2047353166 | BBS10 | c.1880C= (p.Thr627=)
| |
12 | g.76346105G>T | CA385809273 | BBS10 | c.1880C>A (p.Thr627Asn)
| dbSNP gnomAD v2 |
12 | g.76346106T>A | CA385809278 | BBS10 | c.1879A>T (p.Thr627Ser)
| |
12 | g.76346106T>C | CA385809281 | BBS10 | c.1879A>G (p.Thr627Ala)
| |
12 | g.76346106T>G | CA385809284 | BBS10 | c.1879A>C (p.Thr627Pro)
| |
12 | g.76346107T>A | CA385809287 | BBS10 | c.1878A>T (p.Glu626Asp)
| |
12 | g.76346107T>C | CA481010632 | BBS10 | c.1878A>G (p.Glu626=)
| |
12 | g.76346107T>G | CA385809290 | BBS10 | c.1878A>C (p.Glu626Asp)
| |
12 | g.76346108T>A | CA385809297 | BBS10 | c.1877A>T (p.Glu626Val)
| |
12 | g.76346108T>C | CA385809300 | BBS10 | c.1877A>G (p.Glu626Gly)
| |
12 | g.76346108T>G | CA385809294 | BBS10 | c.1877A>C (p.Glu626Ala)
| |
12 | g.76346109C>A | CA385809303 | BBS10 | c.1876G>T (p.Glu626Ter)
| |
12 | g.76346109C>G | CA385809307 | BBS10 | c.1876G>C (p.Glu626Gln)
| |
12 | g.76346109C>T | CA385809305 | BBS10 | c.1876G>A (p.Glu626Lys)
| gnomAD v4 |
12 | g.76346110T>A | CA385809311 | BBS10 | c.1875A>T (p.Glu625Asp)
| gnomAD v4 |
12 | g.76346110T>C | CA481010642 | BBS10 | c.1875A>G (p.Glu625=)
| gnomAD v4 |
12 | g.76346110T>G | CA385809314 | BBS10 | c.1875A>C (p.Glu625Asp)
| |
12 | g.76346111T>A | CA385809315 | BBS10 | c.1874A>T (p.Glu625Val)
| |
12 | g.76346111T>C | CA385809318 | BBS10 | c.1874A>G (p.Glu625Gly)
| gnomAD v4 |
12 | g.76346111T>G | CA385809327 | BBS10 | c.1874A>C (p.Glu625Ala)
| |
12 | g.76346112C>A | CA385809331 | BBS10 | c.1873G>T (p.Glu625Ter)
| |
12 | g.76346112C>G | CA385809333 | BBS10 | c.1873G>C (p.Glu625Gln)
| |
12 | g.76346112C>T | CA385809336 | BBS10 | c.1873G>A (p.Glu625Lys)
| |
12 | g.76346113T>A | CA481010647 | BBS10 | c.1872A>T (p.Ser624=)
| |
12 | g.76346113T>C | CA481010653 | BBS10 | c.1872A>G (p.Ser624=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346113T>G | CA481010655 | BBS10 | c.1872A>C (p.Ser624=)
| |
12 | g.76346113T= | CA2047353167 | BBS10 | c.1872A= (p.Ser624=)
| |
12 | g.76346114G>A | CA385809339 | BBS10 | c.1871C>T (p.Ser624Leu)
| ClinVar dbSNP |
12 | g.76346114G>C | CA6694091 | BBS10 | c.1871C>G (p.Ser624Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346114G= | CA2047353168 | BBS10 | c.1871C= (p.Ser624=)
| |
12 | g.76346114G>T | CA385809343 | BBS10 | c.1871C>A (p.Ser624Ter)
| |
12 | g.76346115A>C | CA385809363 | BBS10 | c.1870T>G (p.Ser624Ala)
| |
12 | g.76346115A>G | CA385809366 | BBS10 | c.1870T>C (p.Ser624Pro)
| |
12 | g.76346115A>T | CA385809369 | BBS10 | c.1870T>A (p.Ser624Thr)
| |
12 | g.76346116T>A | CA385809375 | BBS10 | c.1869A>T (p.Gln623His)
| |
12 | g.76346116T>C | CA481010685 | BBS10 | c.1869A>G (p.Gln623=)
| ClinVar gnomAD v4 |
12 | g.76346116T>G | CA385809373 | BBS10 | c.1869A>C (p.Gln623His)
| |