Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33669014_33669028del | CA2678292847 | ITPR3 | c.2047_2061del (p.Leu683_Tyr687del) c.2116_2130del (p.Leu706_Tyr710del) c.1864_1878del (p.Leu622_Tyr626del) | gnomAD v4 |
6 | g.33669020A>C | CA363697689 | ITPR3 | c.2053A>C (p.Ile685Leu) c.2122A>C (p.Ile708Leu) c.1870A>C (p.Ile624Leu) | |
6 | g.33669020A>G | CA363697690 | ITPR3 | c.2053A>G (p.Ile685Val) c.2122A>G (p.Ile708Val) c.1870A>G (p.Ile624Val) | gnomAD v4 |
6 | g.33669020A>T | CA363697692 | ITPR3 | c.2053A>T (p.Ile685Phe) c.2122A>T (p.Ile708Phe) c.1870A>T (p.Ile624Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669021T>A | CA363697694 | ITPR3 | c.2054T>A (p.Ile685Asn) c.2123T>A (p.Ile708Asn) c.1871T>A (p.Ile624Asn) | |
6 | g.33669021T>C | CA363697695 | ITPR3 | c.2054T>C (p.Ile685Thr) c.2123T>C (p.Ile708Thr) c.1871T>C (p.Ile624Thr) | |
6 | g.33669021T>G | CA363697697 | ITPR3 | c.2054T>G (p.Ile685Ser) c.2123T>G (p.Ile708Ser) c.1871T>G (p.Ile624Ser) | |
6 | g.33669022C>A | CA449882586 | ITPR3 | c.2055C>A (p.Ile685=) c.2124C>A (p.Ile708=) c.1872C>A (p.Ile624=) | |
6 | g.33669022C= | CA1620116749 | ITPR3 | c.2055C= (p.Ile685=) c.2124C= (p.Ile708=) c.1872C= (p.Ile624=) | |
6 | g.33669022C>G | CA363697699 | ITPR3 | c.2055C>G (p.Ile685Met) c.2124C>G (p.Ile708Met) c.1872C>G (p.Ile624Met) | |
6 | g.33669022C>T | CA3760466 | ITPR3 | c.2055C>T (p.Ile685=) c.2124C>T (p.Ile708=) c.1872C>T (p.Ile624=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669023G>A | CA363697706 | ITPR3 | c.2056G>A (p.Glu686Lys) c.2125G>A (p.Glu709Lys) c.1873G>A (p.Glu625Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669023G>C | CA363697705 | ITPR3 | c.2056G>C (p.Glu686Gln) c.2125G>C (p.Glu709Gln) c.1873G>C (p.Glu625Gln) | gnomAD v4 |
6 | g.33669023G= | CA1620116750 | ITPR3 | c.2056G= (p.Glu686=) c.2125G= (p.Glu709=) c.1873G= (p.Glu625=) | |
6 | g.33669023G>T | CA363697703 | ITPR3 | c.2056G>T (p.Glu686Ter) c.2125G>T (p.Glu709Ter) c.1873G>T (p.Glu625Ter) | |
6 | g.33669024A>C | CA363697708 | ITPR3 | c.2057A>C (p.Glu686Ala) c.2126A>C (p.Glu709Ala) c.1874A>C (p.Glu625Ala) | |
6 | g.33669024A>G | CA363697710 | ITPR3 | c.2057A>G (p.Glu686Gly) c.2126A>G (p.Glu709Gly) c.1874A>G (p.Glu625Gly) | |
6 | g.33669024A>T | CA363697711 | ITPR3 | c.2057A>T (p.Glu686Val) c.2126A>T (p.Glu709Val) c.1874A>T (p.Glu625Val) | |
6 | g.33669025G>A | CA449882594 | ITPR3 | c.2058G>A (p.Glu686=) c.2127G>A (p.Glu709=) c.1875G>A (p.Glu625=) | |
6 | g.33669025G>C | CA363697712 | ITPR3 | c.2058G>C (p.Glu686Asp) c.2127G>C (p.Glu709Asp) c.1875G>C (p.Glu625Asp) | |
6 | g.33669025G>T | CA363697714 | ITPR3 | c.2058G>T (p.Glu686Asp) c.2127G>T (p.Glu709Asp) c.1875G>T (p.Glu625Asp) | |
6 | g.33669026T>A | CA363697718 | ITPR3 | c.2059T>A (p.Tyr687Asn) c.2128T>A (p.Tyr710Asn) c.1876T>A (p.Tyr626Asn) | |
6 | g.33669026T>C | CA363697721 | ITPR3 | c.2059T>C (p.Tyr687His) c.2128T>C (p.Tyr710His) c.1876T>C (p.Tyr626His) | |
6 | g.33669026T>G | CA363697724 | ITPR3 | c.2059T>G (p.Tyr687Asp) c.2128T>G (p.Tyr710Asp) c.1876T>G (p.Tyr626Asp) | |
6 | g.33669027A>C | CA363697725 | ITPR3 | c.2060A>C (p.Tyr687Ser) c.2129A>C (p.Tyr710Ser) c.1877A>C (p.Tyr626Ser) | |
6 | g.33669027A>G | CA363697726 | ITPR3 | c.2060A>G (p.Tyr687Cys) c.2129A>G (p.Tyr710Cys) c.1877A>G (p.Tyr626Cys) | |
6 | g.33669027A>T | CA363697727 | ITPR3 | c.2060A>T (p.Tyr687Phe) c.2129A>T (p.Tyr710Phe) c.1877A>T (p.Tyr626Phe) | |
6 | g.33669028C>A | CA363697729 | ITPR3 | c.2061C>A (p.Tyr687Ter) c.2130C>A (p.Tyr710Ter) c.1878C>A (p.Tyr626Ter) | |
6 | g.33669028C>G | CA363697731 | ITPR3 | c.2061C>G (p.Tyr687Ter) c.2130C>G (p.Tyr710Ter) c.1878C>G (p.Tyr626Ter) | |
6 | g.33669028C>T | CA449882603 | ITPR3 | c.2061C>T (p.Tyr687=) c.2130C>T (p.Tyr710=) c.1878C>T (p.Tyr626=) | gnomAD v4 |
6 | g.33669029T>A | CA363697735 | ITPR3 | c.2062T>A (p.Ser688Thr) c.2131T>A (p.Ser711Thr) c.1879T>A (p.Ser627Thr) | |
6 | g.33669029T>C | CA363697737 | ITPR3 | c.2062T>C (p.Ser688Pro) c.2131T>C (p.Ser711Pro) c.1879T>C (p.Ser627Pro) | dbSNP |
6 | g.33669029T>G | CA363697733 | ITPR3 | c.2062T>G (p.Ser688Ala) c.2131T>G (p.Ser711Ala) c.1879T>G (p.Ser627Ala) | gnomAD v4 |
6 | g.33669029T= | CA1620116751 | ITPR3 | c.2062T= (p.Ser688=) c.2131T= (p.Ser711=) c.1879T= (p.Ser627=) | |
6 | g.33669030C>A | CA363697739 | ITPR3 | c.2063C>A (p.Ser688Ter) c.2132C>A (p.Ser711Ter) c.1880C>A (p.Ser627Ter) | |
6 | g.33669030C>G | CA363697740 | ITPR3 | c.2063C>G (p.Ser688Ter) c.2132C>G (p.Ser711Ter) c.1880C>G (p.Ser627Ter) | |
6 | g.33669030C>T | CA363697741 | ITPR3 | c.2063C>T (p.Ser688Leu) c.2132C>T (p.Ser711Leu) c.1880C>T (p.Ser627Leu) | |
6 | g.33669031A>C | CA449882610 | ITPR3 | c.2064A>C (p.Ser688=) c.2133A>C (p.Ser711=) c.1881A>C (p.Ser627=) | |
6 | g.33669031A>G | CA449882612 | ITPR3 | c.2064A>G (p.Ser688=) c.2133A>G (p.Ser711=) c.1881A>G (p.Ser627=) | |
6 | g.33669031A>T | CA449882614 | ITPR3 | c.2064A>T (p.Ser688=) c.2133A>T (p.Ser711=) c.1881A>T (p.Ser627=) | |
6 | g.33669032G>A | CA363697743 | ITPR3 | c.2065G>A (p.Glu689Lys) c.2134G>A (p.Glu712Lys) c.1882G>A (p.Glu628Lys) | |
6 | g.33669032G>C | CA363697744 | ITPR3 | c.2065G>C (p.Glu689Gln) c.2134G>C (p.Glu712Gln) c.1882G>C (p.Glu628Gln) | |
6 | g.33669032G>T | CA363697746 | ITPR3 | c.2065G>T (p.Glu689Ter) c.2134G>T (p.Glu712Ter) c.1882G>T (p.Glu628Ter) | |
6 | g.33669033A= | CA1620116752 | ITPR3 | c.2066A= (p.Glu689=) c.2135A= (p.Glu712=) c.1883A= (p.Glu628=) | |
6 | g.33669033A>C | CA363697749 | ITPR3 | c.2066A>C (p.Glu689Ala) c.2135A>C (p.Glu712Ala) c.1883A>C (p.Glu628Ala) | |
6 | g.33669033A>G | CA3760467 | ITPR3 | c.2066A>G (p.Glu689Gly) c.2135A>G (p.Glu712Gly) c.1883A>G (p.Glu628Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669033A>T | CA363697752 | ITPR3 | c.2066A>T (p.Glu689Val) c.2135A>T (p.Glu712Val) c.1883A>T (p.Glu628Val) | |
6 | g.33669034A>C | CA363697754 | ITPR3 | c.2067A>C (p.Glu689Asp) c.2136A>C (p.Glu712Asp) c.1884A>C (p.Glu628Asp) | |
6 | g.33669034A>G | CA449882622 | ITPR3 | c.2067A>G (p.Glu689=) c.2136A>G (p.Glu712=) c.1884A>G (p.Glu628=) | |
6 | g.33669034A>T | CA363697756 | ITPR3 | c.2067A>T (p.Glu689Asp) c.2136A>T (p.Glu712Asp) c.1884A>T (p.Glu628Asp) | |
6 | g.33669035G>A | CA363697760 | ITPR3 | c.2068G>A (p.Glu690Lys) c.2137G>A (p.Glu713Lys) c.1885G>A (p.Glu629Lys) | |
6 | g.33669035G>C | CA363697759 | ITPR3 | c.2068G>C (p.Glu690Gln) c.2137G>C (p.Glu713Gln) c.1885G>C (p.Glu629Gln) | |
6 | g.33669035G>T | CA363697757 | ITPR3 | c.2068G>T (p.Glu690Ter) c.2137G>T (p.Glu713Ter) c.1885G>T (p.Glu629Ter) | |
6 | g.33669036A>C | CA363697762 | ITPR3 | c.2069A>C (p.Glu690Ala) c.2138A>C (p.Glu713Ala) c.1886A>C (p.Glu629Ala) | |
6 | g.33669036A>G | CA363697763 | ITPR3 | c.2069A>G (p.Glu690Gly) c.2138A>G (p.Glu713Gly) c.1886A>G (p.Glu629Gly) | |
6 | g.33669036A>T | CA363697764 | ITPR3 | c.2069A>T (p.Glu690Val) c.2138A>T (p.Glu713Val) c.1886A>T (p.Glu629Val) | |
6 | g.33669037G>A | CA449882629 | ITPR3 | c.2070G>A (p.Glu690=) c.2139G>A (p.Glu713=) c.1887G>A (p.Glu629=) | dbSNP |
6 | g.33669037G>C | CA363697765 | ITPR3 | c.2070G>C (p.Glu690Asp) c.2139G>C (p.Glu713Asp) c.1887G>C (p.Glu629Asp) | |
6 | g.33669037G= | CA1620116753 | ITPR3 | c.2070G= (p.Glu690=) c.2139G= (p.Glu713=) c.1887G= (p.Glu629=) | |
6 | g.33669037G>T | CA363697766 | ITPR3 | c.2070G>T (p.Glu690Asp) c.2139G>T (p.Glu713Asp) c.1887G>T (p.Glu629Asp) | |
6 | g.33669038G>A | CA363697767 | ITPR3 | c.2071G>A (p.Glu691Lys) c.2140G>A (p.Glu714Lys) c.1888G>A (p.Glu630Lys) | gnomAD v4 |
6 | g.33669038G>C | CA363697768 | ITPR3 | c.2071G>C (p.Glu691Gln) c.2140G>C (p.Glu714Gln) c.1888G>C (p.Glu630Gln) | |
6 | g.33669038G>T | CA363697770 | ITPR3 | c.2071G>T (p.Glu691Ter) c.2140G>T (p.Glu714Ter) c.1888G>T (p.Glu630Ter) | |
6 | g.33669039A= | CA1620116754 | ITPR3 | c.2072A= (p.Glu691=) c.2141A= (p.Glu714=) c.1889A= (p.Glu630=) | |
6 | g.33669039A>C | CA363697772 | ITPR3 | c.2072A>C (p.Glu691Ala) c.2141A>C (p.Glu714Ala) c.1889A>C (p.Glu630Ala) | |
6 | g.33669039A>G | CA363697774 | ITPR3 | c.2072A>G (p.Glu691Gly) c.2141A>G (p.Glu714Gly) c.1889A>G (p.Glu630Gly) | dbSNP |
6 | g.33669039A>T | CA363697775 | ITPR3 | c.2072A>T (p.Glu691Val) c.2141A>T (p.Glu714Val) c.1889A>T (p.Glu630Val) | |
6 | g.33669040A>C | CA363697776 | ITPR3 | c.2073A>C (p.Glu691Asp) c.2142A>C (p.Glu714Asp) c.1890A>C (p.Glu630Asp) | |
6 | g.33669040A>G | CA449882637 | ITPR3 | c.2073A>G (p.Glu691=) c.2142A>G (p.Glu714=) c.1890A>G (p.Glu630=) | |
6 | g.33669040A>T | CA363697777 | ITPR3 | c.2073A>T (p.Glu691Asp) c.2142A>T (p.Glu714Asp) c.1890A>T (p.Glu630Asp) | |
6 | g.33669041G>A | CA363697778 | ITPR3 | c.2074G>A (p.Val692Met) c.2143G>A (p.Val715Met) c.1891G>A (p.Val631Met) | dbSNP gnomAD v4 |
6 | g.33669041G>C | CA363697779 | ITPR3 | c.2074G>C (p.Val692Leu) c.2143G>C (p.Val715Leu) c.1891G>C (p.Val631Leu) | |
6 | g.33669041G= | CA1620116755 | ITPR3 | c.2074G= (p.Val692=) c.2143G= (p.Val715=) c.1891G= (p.Val631=) | |
6 | g.33669041G>T | CA137130566 | ITPR3 | c.2074G>T (p.Val692Leu) c.2143G>T (p.Val715Leu) c.1891G>T (p.Val631Leu) | dbSNP |
6 | g.33669042T>A | CA363697784 | ITPR3 | c.2075T>A (p.Val692Glu) c.2144T>A (p.Val715Glu) c.1892T>A (p.Val631Glu) | |
6 | g.33669042T>C | CA363697782 | ITPR3 | c.2075T>C (p.Val692Ala) c.2144T>C (p.Val715Ala) c.1892T>C (p.Val631Ala) | dbSNP |
6 | g.33669042T>G | CA363697786 | ITPR3 | c.2075T>G (p.Val692Gly) c.2144T>G (p.Val715Gly) c.1892T>G (p.Val631Gly) | |
6 | g.33669042T= | CA1620116756 | ITPR3 | c.2075T= (p.Val692=) c.2144T= (p.Val715=) c.1892T= (p.Val631=) | |
6 | g.33669043G>A | CA449882645 | ITPR3 | c.2076G>A (p.Val692=) c.2145G>A (p.Val715=) c.1893G>A (p.Val631=) | gnomAD v4 |
6 | g.33669043G>C | CA449882647 | ITPR3 | c.2076G>C (p.Val692=) c.2145G>C (p.Val715=) c.1893G>C (p.Val631=) | |
6 | g.33669043G>T | CA449882648 | ITPR3 | c.2076G>T (p.Val692=) c.2145G>T (p.Val715=) c.1893G>T (p.Val631=) | |
6 | g.33669044T>A | CA363697787 | ITPR3 | c.2077T>A (p.Trp693Arg) c.2146T>A (p.Trp716Arg) c.1894T>A (p.Trp632Arg) | |
6 | g.33669044T>C | CA363697790 | ITPR3 | c.2077T>C (p.Trp693Arg) c.2146T>C (p.Trp716Arg) c.1894T>C (p.Trp632Arg) | |
6 | g.33669044T>G | CA363697792 | ITPR3 | c.2077T>G (p.Trp693Gly) c.2146T>G (p.Trp716Gly) c.1894T>G (p.Trp632Gly) | |
6 | g.33669045G>A | CA363697795 | ITPR3 | c.2078G>A (p.Trp693Ter) c.2147G>A (p.Trp716Ter) c.1895G>A (p.Trp632Ter) | |
6 | g.33669045G>C | CA363697796 | ITPR3 | c.2078G>C (p.Trp693Ser) c.2147G>C (p.Trp716Ser) c.1895G>C (p.Trp632Ser) | |
6 | g.33669045G>T | CA363697798 | ITPR3 | c.2078G>T (p.Trp693Leu) c.2147G>T (p.Trp716Leu) c.1895G>T (p.Trp632Leu) | |
6 | g.33669046G>A | CA363697800 | ITPR3 | c.2079G>A (p.Trp693Ter) c.2148G>A (p.Trp716Ter) c.1896G>A (p.Trp632Ter) | |
6 | g.33669046G>C | CA363697802 | ITPR3 | c.2079G>C (p.Trp693Cys) c.2148G>C (p.Trp716Cys) c.1896G>C (p.Trp632Cys) | COSMIC COSMIC |
6 | g.33669046G>T | CA363697804 | ITPR3 | c.2079G>T (p.Trp693Cys) c.2148G>T (p.Trp716Cys) c.1896G>T (p.Trp632Cys) | |
6 | g.33669047C>A | CA363697806 | ITPR3 | c.2080C>A (p.Leu694Ile) c.2149C>A (p.Leu717Ile) c.1897C>A (p.Leu633Ile) | |
6 | g.33669047C>G | CA363697807 | ITPR3 | c.2080C>G (p.Leu694Val) c.2149C>G (p.Leu717Val) c.1897C>G (p.Leu633Val) | |
6 | g.33669047C>T | CA363697809 | ITPR3 | c.2080C>T (p.Leu694Phe) c.2149C>T (p.Leu717Phe) c.1897C>T (p.Leu633Phe) | |
6 | g.33669048T>A | CA363697812 | ITPR3 | c.2081T>A (p.Leu694His) c.2150T>A (p.Leu717His) c.1898T>A (p.Leu633His) | |
6 | g.33669048T>C | CA363697815 | ITPR3 | c.2081T>C (p.Leu694Pro) c.2150T>C (p.Leu717Pro) c.1898T>C (p.Leu633Pro) | |
6 | g.33669048T>G | CA363697814 | ITPR3 | c.2081T>G (p.Leu694Arg) c.2150T>G (p.Leu717Arg) c.1898T>G (p.Leu633Arg) | |
6 | g.33669049C>A | CA449882665 | ITPR3 | c.2082C>A (p.Leu694=) c.2151C>A (p.Leu717=) c.1899C>A (p.Leu633=) | |
6 | g.33669049C>G | CA449882666 | ITPR3 | c.2082C>G (p.Leu694=) c.2151C>G (p.Leu717=) c.1899C>G (p.Leu633=) | |
6 | g.33669049C>T | CA449882667 | ITPR3 | c.2082C>T (p.Leu694=) c.2151C>T (p.Leu717=) c.1899C>T (p.Leu633=) | |
6 | g.33669050A>C | CA363697818 | ITPR3 | c.2083A>C (p.Thr695Pro) c.2152A>C (p.Thr718Pro) c.1900A>C (p.Thr634Pro) | gnomAD v4 |
6 | g.33669050A>G | CA363697820 | ITPR3 | c.2083A>G (p.Thr695Ala) c.2152A>G (p.Thr718Ala) c.1900A>G (p.Thr634Ala) | |
6 | g.33669050A>T | CA363697822 | ITPR3 | c.2083A>T (p.Thr695Ser) c.2152A>T (p.Thr718Ser) c.1900A>T (p.Thr634Ser) | |
6 | g.33669051C>A | CA363697824 | ITPR3 | c.2084C>A (p.Thr695Lys) c.2153C>A (p.Thr718Lys) c.1901C>A (p.Thr634Lys) | |
6 | g.33669051C= | CA1620116757 | ITPR3 | c.2084C= (p.Thr695=) c.2153C= (p.Thr718=) c.1901C= (p.Thr634=) | |
6 | g.33669051C>G | CA363697826 | ITPR3 | c.2084C>G (p.Thr695Arg) c.2153C>G (p.Thr718Arg) c.1901C>G (p.Thr634Arg) | |
6 | g.33669051C>T | CA3760468 | ITPR3 | c.2084C>T (p.Thr695Met) c.2153C>T (p.Thr718Met) c.1901C>T (p.Thr634Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669052G>A | CA3760469 | ITPR3 | c.2085G>A (p.Thr695=) c.2154G>A (p.Thr718=) c.1902G>A (p.Thr634=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669052G>C | CA449882677 | ITPR3 | c.2085G>C (p.Thr695=) c.2154G>C (p.Thr718=) c.1902G>C (p.Thr634=) | |
6 | g.33669052G= | CA1620116758 | ITPR3 | c.2085G= (p.Thr695=) c.2154G= (p.Thr718=) c.1902G= (p.Thr634=) | |
6 | g.33669052G>T | CA449882674 | ITPR3 | c.2085G>T (p.Thr695=) c.2154G>T (p.Thr718=) c.1902G>T (p.Thr634=) | COSMIC COSMIC |
6 | g.33669053T>A | CA363697831 | ITPR3 | c.2086T>A (p.Trp696Arg) c.2155T>A (p.Trp719Arg) c.1903T>A (p.Trp635Arg) | |
6 | g.33669053T>C | CA363697832 | ITPR3 | c.2086T>C (p.Trp696Arg) c.2155T>C (p.Trp719Arg) c.1903T>C (p.Trp635Arg) | |
6 | g.33669053T>G | CA363697834 | ITPR3 | c.2086T>G (p.Trp696Gly) c.2155T>G (p.Trp719Gly) c.1903T>G (p.Trp635Gly) | |
6 | g.33669054G>A | CA363697839 | ITPR3 | c.2087G>A (p.Trp696Ter) c.2156G>A (p.Trp719Ter) c.1904G>A (p.Trp635Ter) | |
6 | g.33669054G>C | CA363697841 | ITPR3 | c.2087G>C (p.Trp696Ser) c.2156G>C (p.Trp719Ser) c.1904G>C (p.Trp635Ser) | |
6 | g.33669054G>T | CA363697837 | ITPR3 | c.2087G>T (p.Trp696Leu) c.2156G>T (p.Trp719Leu) c.1904G>T (p.Trp635Leu) | |
6 | g.33669055G>A | CA3760470 | ITPR3 | c.2088G>A (p.Trp696Ter) c.2157G>A (p.Trp719Ter) c.1905G>A (p.Trp635Ter) | dbSNP ExAC gnomAD v2 |
6 | g.33669055G>C | CA363697844 | ITPR3 | c.2088G>C (p.Trp696Cys) c.2157G>C (p.Trp719Cys) c.1905G>C (p.Trp635Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669055G= | CA1620116759 | ITPR3 | c.2088G= (p.Trp696=) c.2157G= (p.Trp719=) c.1905G= (p.Trp635=) | |
6 | g.33669055G>T | CA363697846 | ITPR3 | c.2088G>T (p.Trp696Cys) c.2157G>T (p.Trp719Cys) c.1905G>T (p.Trp635Cys) | |
6 | g.33669056A>C | CA363697848 | ITPR3 | c.2089A>C (p.Thr697Pro) c.2158A>C (p.Thr720Pro) c.1906A>C (p.Thr636Pro) | |
6 | g.33669056A>G | CA363697851 | ITPR3 | c.2089A>G (p.Thr697Ala) c.2158A>G (p.Thr720Ala) c.1906A>G (p.Thr636Ala) | |
6 | g.33669056A>T | CA363697853 | ITPR3 | c.2089A>T (p.Thr697Ser) c.2158A>T (p.Thr720Ser) c.1906A>T (p.Thr636Ser) | |
6 | g.33669057C>A | CA363697856 | ITPR3 | c.2090C>A (p.Thr697Asn) c.2159C>A (p.Thr720Asn) c.1907C>A (p.Thr636Asn) | |
6 | g.33669057C>G | CA363697857 | ITPR3 | c.2090C>G (p.Thr697Ser) c.2159C>G (p.Thr720Ser) c.1907C>G (p.Thr636Ser) | |
6 | g.33669057C>T | CA363697859 | ITPR3 | c.2090C>T (p.Thr697Ile) c.2159C>T (p.Thr720Ile) c.1907C>T (p.Thr636Ile) | |
6 | g.33669058T>A | CA449882695 | ITPR3 | c.2091T>A (p.Thr697=) c.2160T>A (p.Thr720=) c.1908T>A (p.Thr636=) | |
6 | g.33669058T>C | CA449882697 | ITPR3 | c.2091T>C (p.Thr697=) c.2160T>C (p.Thr720=) c.1908T>C (p.Thr636=) | |
6 | g.33669058T>G | CA449882699 | ITPR3 | c.2091T>G (p.Thr697=) c.2160T>G (p.Thr720=) c.1908T>G (p.Thr636=) | gnomAD v4 |
6 | g.33669059G>A | CA363697861 | ITPR3 | c.2092G>A (p.Asp698Asn) c.2161G>A (p.Asp721Asn) c.1909G>A (p.Asp637Asn) | |
6 | g.33669059G>C | CA363697863 | ITPR3 | c.2092G>C (p.Asp698His) c.2161G>C (p.Asp721His) c.1909G>C (p.Asp637His) | |
6 | g.33669059G>T | CA363697864 | ITPR3 | c.2092G>T (p.Asp698Tyr) c.2161G>T (p.Asp721Tyr) c.1909G>T (p.Asp637Tyr) | |
6 | g.33669060A>C | CA363697870 | ITPR3 | c.2093A>C (p.Asp698Ala) c.2162A>C (p.Asp721Ala) c.1910A>C (p.Asp637Ala) | |
6 | g.33669060A>G | CA363697866 | ITPR3 | c.2093A>G (p.Asp698Gly) c.2162A>G (p.Asp721Gly) c.1910A>G (p.Asp637Gly) | |
6 | g.33669060A>T | CA363697868 | ITPR3 | c.2093A>T (p.Asp698Val) c.2162A>T (p.Asp721Val) c.1910A>T (p.Asp637Val) | |
6 | g.33669061C>A | CA363697872 | ITPR3 | c.2094C>A (p.Asp698Glu) c.2163C>A (p.Asp721Glu) c.1911C>A (p.Asp637Glu) | |
6 | g.33669061C>G | CA363697874 | ITPR3 | c.2094C>G (p.Asp698Glu) c.2163C>G (p.Asp721Glu) c.1911C>G (p.Asp637Glu) | |
6 | g.33669061C>T | CA449882706 | ITPR3 | c.2094C>T (p.Asp698=) c.2163C>T (p.Asp721=) c.1911C>T (p.Asp637=) | |
6 | g.33669062A>C | CA363697876 | ITPR3 | c.2095A>C (p.Lys699Gln) c.2164A>C (p.Lys722Gln) c.1912A>C (p.Lys638Gln) | |
6 | g.33669062A>G | CA363697878 | ITPR3 | c.2095A>G (p.Lys699Glu) c.2164A>G (p.Lys722Glu) c.1912A>G (p.Lys638Glu) | gnomAD v4 |
6 | g.33669062A>T | CA363697880 | ITPR3 | c.2095A>T (p.Lys699Ter) c.2164A>T (p.Lys722Ter) c.1912A>T (p.Lys638Ter) | |
6 | g.33669063A= | CA1620116760 | ITPR3 | c.2096A= (p.Lys699=) c.2165A= (p.Lys722=) c.1913A= (p.Lys638=) | |
6 | g.33669063A>C | CA363697882 | ITPR3 | c.2096A>C (p.Lys699Thr) c.2165A>C (p.Lys722Thr) c.1913A>C (p.Lys638Thr) | |
6 | g.33669063A>G | CA363697884 | ITPR3 | c.2096A>G (p.Lys699Arg) c.2165A>G (p.Lys722Arg) c.1913A>G (p.Lys638Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669063A>T | CA363697886 | ITPR3 | c.2096A>T (p.Lys699Met) c.2165A>T (p.Lys722Met) c.1913A>T (p.Lys638Met) | |
6 | g.33669064G>A | CA449882713 | ITPR3 | c.2097G>A (p.Lys699=) c.2166G>A (p.Lys722=) c.1914G>A (p.Lys638=) | |
6 | g.33669064G>C | CA363697887 | ITPR3 | c.2097G>C (p.Lys699Asn) c.2166G>C (p.Lys722Asn) c.1914G>C (p.Lys638Asn) | gnomAD v4 |
6 | g.33669064G>T | CA363697889 | ITPR3 | c.2097G>T (p.Lys699Asn) c.2166G>T (p.Lys722Asn) c.1914G>T (p.Lys638Asn) | |
6 | g.33669064_33669065delinsGA | CA1620116761 | ITPR3 | c.2097_2098delinsGA (p.Lys699=) c.2166_2167delinsGA (p.Lys722=) c.1914_1915delinsGA (p.Lys638=) | |
6 | g.33669065A>C | CA363697891 | ITPR3 | c.2098A>C (p.Asn700His) c.2167A>C (p.Asn723His) c.1915A>C (p.Asn639His) | |
6 | g.33669065A>G | CA363697892 | ITPR3 | c.2098A>G (p.Asn700Asp) c.2167A>G (p.Asn723Asp) c.1915A>G (p.Asn639Asp) | gnomAD v4 |
6 | g.33669065A>T | CA363697893 | ITPR3 | c.2098A>T (p.Asn700Tyr) c.2167A>T (p.Asn723Tyr) c.1915A>T (p.Asn639Tyr) | |
6 | g.33669066del | CA917720223 | ITPR3 | c.2099del (p.Asn700IlefsTer9) c.2168del (p.Asn723IlefsTer9) c.1916del (p.Asn639IlefsTer9) | dbSNP gnomAD v4 |
6 | g.33669066A>C | CA363697897 | ITPR3 | c.2099A>C (p.Asn700Thr) c.2168A>C (p.Asn723Thr) c.1916A>C (p.Asn639Thr) | |
6 | g.33669066A>G | CA363697899 | ITPR3 | c.2099A>G (p.Asn700Ser) c.2168A>G (p.Asn723Ser) c.1916A>G (p.Asn639Ser) | gnomAD v4 |
6 | g.33669066A>T | CA363697895 | ITPR3 | c.2099A>T (p.Asn700Ile) c.2168A>T (p.Asn723Ile) c.1916A>T (p.Asn639Ile) | |
6 | g.33669067T>A | CA363697901 | ITPR3 | c.2100T>A (p.Asn700Lys) c.2169T>A (p.Asn723Lys) c.1917T>A (p.Asn639Lys) | |
6 | g.33669067T>C | CA449882722 | ITPR3 | c.2100T>C (p.Asn700=) c.2169T>C (p.Asn723=) c.1917T>C (p.Asn639=) | |
6 | g.33669067T>G | CA363697903 | ITPR3 | c.2100T>G (p.Asn700Lys) c.2169T>G (p.Asn723Lys) c.1917T>G (p.Asn639Lys) | |
6 | g.33669068A>C | CA363697904 | ITPR3 | c.2101A>C (p.Asn701His) c.2170A>C (p.Asn724His) c.1918A>C (p.Asn640His) | |
6 | g.33669068A>G | CA363697906 | ITPR3 | c.2101A>G (p.Asn701Asp) c.2170A>G (p.Asn724Asp) c.1918A>G (p.Asn640Asp) | |
6 | g.33669068A>T | CA363697909 | ITPR3 | c.2101A>T (p.Asn701Tyr) c.2170A>T (p.Asn724Tyr) c.1918A>T (p.Asn640Tyr) | |
6 | g.33669069A>C | CA363697915 | ITPR3 | c.2102A>C (p.Asn701Thr) c.2171A>C (p.Asn724Thr) c.1919A>C (p.Asn640Thr) | |
6 | g.33669069A>G | CA363697914 | ITPR3 | c.2102A>G (p.Asn701Ser) c.2171A>G (p.Asn724Ser) c.1919A>G (p.Asn640Ser) | |
6 | g.33669069A>T | CA363697912 | ITPR3 | c.2102A>T (p.Asn701Ile) c.2171A>T (p.Asn724Ile) c.1919A>T (p.Asn640Ile) | |
6 | g.33669070C>A | CA363697916 | ITPR3 | c.2103C>A (p.Asn701Lys) c.2172C>A (p.Asn724Lys) c.1920C>A (p.Asn640Lys) | |
6 | g.33669070C= | CA1620116762 | ITPR3 | c.2103C= (p.Asn701=) c.2172C= (p.Asn724=) c.1920C= (p.Asn640=) | |
6 | g.33669070C>G | CA363697918 | ITPR3 | c.2103C>G (p.Asn701Lys) c.2172C>G (p.Asn724Lys) c.1920C>G (p.Asn640Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669070C>T | CA3760471 | ITPR3 | c.2103C>T (p.Asn701=) c.2172C>T (p.Asn724=) c.1920C>T (p.Asn640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669071G>A | CA3760472 | ITPR3 | c.2104G>A (p.Glu702Lys) c.2173G>A (p.Glu725Lys) c.1921G>A (p.Glu641Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33669071G>C | CA363697921 | ITPR3 | c.2104G>C (p.Glu702Gln) c.2173G>C (p.Glu725Gln) c.1921G>C (p.Glu641Gln) | |
6 | g.33669071G= | CA1620116763 | ITPR3 | c.2104G= (p.Glu702=) c.2173G= (p.Glu725=) c.1921G= (p.Glu641=) | |
6 | g.33669071G>T | CA363697923 | ITPR3 | c.2104G>T (p.Glu702Ter) c.2173G>T (p.Glu725Ter) c.1921G>T (p.Glu641Ter) | |
6 | g.33669072A>C | CA363697929 | ITPR3 | c.2105A>C (p.Glu702Ala) c.2174A>C (p.Glu725Ala) c.1922A>C (p.Glu641Ala) | |
6 | g.33669072A>G | CA363697925 | ITPR3 | c.2105A>G (p.Glu702Gly) c.2174A>G (p.Glu725Gly) c.1922A>G (p.Glu641Gly) | |
6 | g.33669072A>T | CA363697927 | ITPR3 | c.2105A>T (p.Glu702Val) c.2174A>T (p.Glu725Val) c.1922A>T (p.Glu641Val) | |
6 | g.33669073G>A | CA449882987 | ITPR3 | c.2106G>A (p.Glu702=) c.2175G>A (p.Glu725=) c.1923G>A (p.Glu641=) | |
6 | g.33669073G>C | CA363697932 | ITPR3 | c.2106G>C (p.Glu702Asp) c.2175G>C (p.Glu725Asp) c.1923G>C (p.Glu641Asp) | |
6 | g.33669073G>T | CA363697934 | ITPR3 | c.2106G>T (p.Glu702Asp) c.2175G>T (p.Glu725Asp) c.1923G>T (p.Glu641Asp) | |
6 | g.33669074C>A | CA363697936 | ITPR3 | c.2107C>A (p.His703Asn) c.2176C>A (p.His726Asn) c.1924C>A (p.His642Asn) | |
6 | g.33669074C>G | CA363697937 | ITPR3 | c.2107C>G (p.His703Asp) c.2176C>G (p.His726Asp) c.1924C>G (p.His642Asp) | |
6 | g.33669074C>T | CA363697939 | ITPR3 | c.2107C>T (p.His703Tyr) c.2176C>T (p.His726Tyr) c.1924C>T (p.His642Tyr) | |
6 | g.33669075A>C | CA363697940 | ITPR3 | c.2108A>C (p.His703Pro) c.2177A>C (p.His726Pro) c.1925A>C (p.His642Pro) | |
6 | g.33669075A>G | CA363697941 | ITPR3 | c.2108A>G (p.His703Arg) c.2177A>G (p.His726Arg) c.1925A>G (p.His642Arg) | |
6 | g.33669075A>T | CA363697942 | ITPR3 | c.2108A>T (p.His703Leu) c.2177A>T (p.His726Leu) c.1925A>T (p.His642Leu) | |
6 | g.33669076T>A | CA363697944 | ITPR3 | c.2109T>A (p.His703Gln) c.2178T>A (p.His726Gln) c.1926T>A (p.His642Gln) | gnomAD v4 |
6 | g.33669076T>C | CA449882996 | ITPR3 | c.2109T>C (p.His703=) c.2178T>C (p.His726=) c.1926T>C (p.His642=) | gnomAD v4 |
6 | g.33669076T>G | CA363697949 | ITPR3 | c.2109T>G (p.His703Gln) c.2178T>G (p.His726Gln) c.1926T>G (p.His642Gln) | |
6 | g.33669077C>A | CA363697951 | ITPR3 | c.2110C>A (p.His704Asn) c.2179C>A (p.His727Asn) c.1927C>A (p.His643Asn) | |
6 | g.33669077C= | CA1620116764 | ITPR3 | c.2110C= (p.His704=) c.2179C= (p.His727=) c.1927C= (p.His643=) | |
6 | g.33669077C>G | CA363697953 | ITPR3 | c.2110C>G (p.His704Asp) c.2179C>G (p.His727Asp) c.1927C>G (p.His643Asp) | |
6 | g.33669077C>T | CA137130595 | ITPR3 | c.2110C>T (p.His704Tyr) c.2179C>T (p.His727Tyr) c.1927C>T (p.His643Tyr) | dbSNP |
6 | g.33669078A= | CA1620116765 | ITPR3 | c.2111A= (p.His704=) c.2180A= (p.His727=) c.1928A= (p.His643=) | |
6 | g.33669078A>C | CA363697956 | ITPR3 | c.2111A>C (p.His704Pro) c.2180A>C (p.His727Pro) c.1928A>C (p.His643Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669078A>G | CA363697958 | ITPR3 | c.2111A>G (p.His704Arg) c.2180A>G (p.His727Arg) c.1928A>G (p.His643Arg) | |
6 | g.33669078A>T | CA3760473 | ITPR3 | c.2111A>T (p.His704Leu) c.2180A>T (p.His727Leu) c.1928A>T (p.His643Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669081_33669140del | CA2678292922 | ITPR3 | c.2114_2173del (p.Glu705_Asn724del) c.2183_2242del (p.Glu728_Asn747del) c.1931_1990del (p.Glu644_Asn663del) | gnomAD v4 |
6 | g.33669079T>A | CA363697959 | ITPR3 | c.2112T>A (p.His704Gln) c.2181T>A (p.His727Gln) c.1929T>A (p.His643Gln) | dbSNP |
6 | g.33669079T>C | CA449883006 | ITPR3 | c.2112T>C (p.His704=) c.2181T>C (p.His727=) c.1929T>C (p.His643=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669079T>G | CA363697961 | ITPR3 | c.2112T>G (p.His704Gln) c.2181T>G (p.His727Gln) c.1929T>G (p.His643Gln) | |
6 | g.33669079T= | CA1620116766 | ITPR3 | c.2112T= (p.His704=) c.2181T= (p.His727=) c.1929T= (p.His643=) | |
6 | g.33669080G>A | CA363697962 | ITPR3 | c.2113G>A (p.Glu705Lys) c.2182G>A (p.Glu728Lys) c.1930G>A (p.Glu644Lys) | |
6 | g.33669080G>C | CA363697964 | ITPR3 | c.2113G>C (p.Glu705Gln) c.2182G>C (p.Glu728Gln) c.1930G>C (p.Glu644Gln) | |
6 | g.33669080G>T | CA363697966 | ITPR3 | c.2113G>T (p.Glu705Ter) c.2182G>T (p.Glu728Ter) c.1930G>T (p.Glu644Ter) | |
6 | g.33669080_33669082del | CA2678292928 | ITPR3 | c.2113_2115del (p.Glu705del) c.2182_2184del (p.Glu728del) c.1930_1932del (p.Glu644del) | gnomAD v4 |
6 | g.33669081A>C | CA363697968 | ITPR3 | c.2114A>C (p.Glu705Ala) c.2183A>C (p.Glu728Ala) c.1931A>C (p.Glu644Ala) | |
6 | g.33669081A>G | CA363697970 | ITPR3 | c.2114A>G (p.Glu705Gly) c.2183A>G (p.Glu728Gly) c.1931A>G (p.Glu644Gly) | |
6 | g.33669081A>T | CA363697972 | ITPR3 | c.2114A>T (p.Glu705Val) c.2183A>T (p.Glu728Val) c.1931A>T (p.Glu644Val) | |
6 | g.33669082G>A | CA449883015 | ITPR3 | c.2115G>A (p.Glu705=) c.2184G>A (p.Glu728=) c.1932G>A (p.Glu644=) | |
6 | g.33669082G>C | CA363697974 | ITPR3 | c.2115G>C (p.Glu705Asp) c.2184G>C (p.Glu728Asp) c.1932G>C (p.Glu644Asp) | |
6 | g.33669082G>T | CA363697976 | ITPR3 | c.2115G>T (p.Glu705Asp) c.2184G>T (p.Glu728Asp) c.1932G>T (p.Glu644Asp) | |
6 | g.33669083A= | CA1620116767 | ITPR3 | c.2116A= (p.Lys706=) c.2185A= (p.Lys729=) c.1933A= (p.Lys645=) | |
6 | g.33669083A>C | CA363697978 | ITPR3 | c.2116A>C (p.Lys706Gln) c.2185A>C (p.Lys729Gln) c.1933A>C (p.Lys645Gln) | gnomAD v4 |
6 | g.33669083A>G | CA3760474 | ITPR3 | c.2116A>G (p.Lys706Glu) c.2185A>G (p.Lys729Glu) c.1933A>G (p.Lys645Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669083A>T | CA363697982 | ITPR3 | c.2116A>T (p.Lys706Ter) c.2185A>T (p.Lys729Ter) c.1933A>T (p.Lys645Ter) | |
6 | g.33669084A>C | CA363697988 | ITPR3 | c.2117A>C (p.Lys706Thr) c.2186A>C (p.Lys729Thr) c.1934A>C (p.Lys645Thr) | |
6 | g.33669084A>G | CA363697984 | ITPR3 | c.2117A>G (p.Lys706Arg) c.2186A>G (p.Lys729Arg) c.1934A>G (p.Lys645Arg) | |
6 | g.33669084A>T | CA363697986 | ITPR3 | c.2117A>T (p.Lys706Met) c.2186A>T (p.Lys729Met) c.1934A>T (p.Lys645Met) | |
6 | g.33669085G>A | CA449883028 | ITPR3 | c.2118G>A (p.Lys706=) c.2187G>A (p.Lys729=) c.1935G>A (p.Lys645=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669085G>C | CA3760475 | ITPR3 | c.2118G>C (p.Lys706Asn) c.2187G>C (p.Lys729Asn) c.1935G>C (p.Lys645Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33669085G= | CA1620116768 | ITPR3 | c.2118G= (p.Lys706=) c.2187G= (p.Lys729=) c.1935G= (p.Lys645=) | |
6 | g.33669085G>T | CA363697991 | ITPR3 | c.2118G>T (p.Lys706Asn) c.2187G>T (p.Lys729Asn) c.1935G>T (p.Lys645Asn) | COSMIC COSMIC |
6 | g.33669086A>C | CA363697993 | ITPR3 | c.2119A>C (p.Ser707Arg) c.2188A>C (p.Ser730Arg) c.1936A>C (p.Ser646Arg) | |
6 | g.33669086A>G | CA363697995 | ITPR3 | c.2119A>G (p.Ser707Gly) c.2188A>G (p.Ser730Gly) c.1936A>G (p.Ser646Gly) | gnomAD v4 |
6 | g.33669086A>T | CA363697996 | ITPR3 | c.2119A>T (p.Ser707Cys) c.2188A>T (p.Ser730Cys) c.1936A>T (p.Ser646Cys) | |
6 | g.33669087G>A | CA363697998 | ITPR3 | c.2120G>A (p.Ser707Asn) c.2189G>A (p.Ser730Asn) c.1937G>A (p.Ser646Asn) | dbSNP gnomAD v2 |
6 | g.33669087G>C | CA363698000 | ITPR3 | c.2120G>C (p.Ser707Thr) c.2189G>C (p.Ser730Thr) c.1937G>C (p.Ser646Thr) | gnomAD v4 |
6 | g.33669087G= | CA1620116769 | ITPR3 | c.2120G= (p.Ser707=) c.2189G= (p.Ser730=) c.1937G= (p.Ser646=) | |
6 | g.33669087G>T | CA363698002 | ITPR3 | c.2120G>T (p.Ser707Ile) c.2189G>T (p.Ser730Ile) c.1937G>T (p.Ser646Ile) | |
6 | g.33669088T>A | CA363698004 | ITPR3 | c.2121T>A (p.Ser707Arg) c.2190T>A (p.Ser730Arg) c.1938T>A (p.Ser646Arg) | dbSNP |
6 | g.33669088T>C | CA449883039 | ITPR3 | c.2121T>C (p.Ser707=) c.2190T>C (p.Ser730=) c.1938T>C (p.Ser646=) | |
6 | g.33669088T>G | CA363698006 | ITPR3 | c.2121T>G (p.Ser707Arg) c.2190T>G (p.Ser730Arg) c.1938T>G (p.Ser646Arg) | |
6 | g.33669088T= | CA1620116770 | ITPR3 | c.2121T= (p.Ser707=) c.2190T= (p.Ser730=) c.1938T= (p.Ser646=) | |
6 | g.33669089G>A | CA363698008 | ITPR3 | c.2122G>A (p.Val708Met) c.2191G>A (p.Val731Met) c.1939G>A (p.Val647Met) | |
6 | g.33669089G>C | CA363698010 | ITPR3 | c.2122G>C (p.Val708Leu) c.2191G>C (p.Val731Leu) c.1939G>C (p.Val647Leu) | |
6 | g.33669089G>T | CA363698012 | ITPR3 | c.2122G>T (p.Val708Leu) c.2191G>T (p.Val731Leu) c.1939G>T (p.Val647Leu) | |
6 | g.33669090T>A | CA363698017 | ITPR3 | c.2123T>A (p.Val708Glu) c.2192T>A (p.Val731Glu) c.1940T>A (p.Val647Glu) | |
6 | g.33669090T>C | CA3760476 | ITPR3 | c.2123T>C (p.Val708Ala) c.2192T>C (p.Val731Ala) c.1940T>C (p.Val647Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669090T>G | CA363698014 | ITPR3 | c.2123T>G (p.Val708Gly) c.2192T>G (p.Val731Gly) c.1940T>G (p.Val647Gly) | |
6 | g.33669090T= | CA1620116771 | ITPR3 | c.2123T= (p.Val708=) c.2192T= (p.Val731=) c.1940T= (p.Val647=) | |
6 | g.33669091G>A | CA449883047 | ITPR3 | c.2124G>A (p.Val708=) c.2193G>A (p.Val731=) c.1941G>A (p.Val647=) | |
6 | g.33669091G>C | CA449883048 | ITPR3 | c.2124G>C (p.Val708=) c.2193G>C (p.Val731=) c.1941G>C (p.Val647=) | |
6 | g.33669091G>T | CA449883050 | ITPR3 | c.2124G>T (p.Val708=) c.2193G>T (p.Val731=) c.1941G>T (p.Val647=) | |
6 | g.33669092A= | CA1620116772 | ITPR3 | c.2125A= (p.Arg709=) c.2194A= (p.Arg732=) c.1942A= (p.Arg648=) | |
6 | g.33669092A>C | CA449883053 | ITPR3 | c.2125A>C (p.Arg709=) c.2194A>C (p.Arg732=) c.1942A>C (p.Arg648=) | |
6 | g.33669092A>G | CA363698021 | ITPR3 | c.2125A>G (p.Arg709Gly) c.2194A>G (p.Arg732Gly) c.1942A>G (p.Arg648Gly) | dbSNP |
6 | g.33669092A>T | CA363698019 | ITPR3 | c.2125A>T (p.Arg709Trp) c.2194A>T (p.Arg732Trp) c.1942A>T (p.Arg648Trp) | |
6 | g.33669093G>A | CA363698025 | ITPR3 | c.2126G>A (p.Arg709Lys) c.2195G>A (p.Arg732Lys) c.1943G>A (p.Arg648Lys) | |
6 | g.33669093G>C | CA363698024 | ITPR3 | c.2126G>C (p.Arg709Thr) c.2195G>C (p.Arg732Thr) c.1943G>C (p.Arg648Thr) | |
6 | g.33669093G>T | CA363698027 | ITPR3 | c.2126G>T (p.Arg709Met) c.2195G>T (p.Arg732Met) c.1943G>T (p.Arg648Met) | |
6 | g.33669094G>A | CA449883058 | ITPR3 | c.2127G>A (p.Arg709=) c.2196G>A (p.Arg732=) c.1944G>A (p.Arg648=) | gnomAD v4 |
6 | g.33669094G>C | CA363698029 | ITPR3 | c.2127G>C (p.Arg709Ser) c.2196G>C (p.Arg732Ser) c.1944G>C (p.Arg648Ser) | |
6 | g.33669094G>T | CA363698031 | ITPR3 | c.2127G>T (p.Arg709Ser) c.2196G>T (p.Arg732Ser) c.1944G>T (p.Arg648Ser) | |
6 | g.33669094_33669095del | CA1087692443 | ITPR3 | c.2127_2128del (p.Gln710AlafsTer?) c.2196_2197del (p.Gln733AlafsTer?) c.1944_1945del (p.Gln649AlafsTer?) | gnomAD v3 gnomAD v4 |
6 | g.33669095C>A | CA363698033 | ITPR3 | c.2128C>A (p.Gln710Lys) c.2197C>A (p.Gln733Lys) c.1945C>A (p.Gln649Lys) | |
6 | g.33669095C>G | CA363698034 | ITPR3 | c.2128C>G (p.Gln710Glu) c.2197C>G (p.Gln733Glu) c.1945C>G (p.Gln649Glu) | |
6 | g.33669095C>T | CA363698036 | ITPR3 | c.2128C>T (p.Gln710Ter) c.2197C>T (p.Gln733Ter) c.1945C>T (p.Gln649Ter) | gnomAD v4 |
6 | g.33669096A>C | CA363698038 | ITPR3 | c.2129A>C (p.Gln710Pro) c.2198A>C (p.Gln733Pro) c.1946A>C (p.Gln649Pro) | |
6 | g.33669096A>G | CA363698040 | ITPR3 | c.2129A>G (p.Gln710Arg) c.2198A>G (p.Gln733Arg) c.1946A>G (p.Gln649Arg) | |
6 | g.33669096A>T | CA363698042 | ITPR3 | c.2129A>T (p.Gln710Leu) c.2198A>T (p.Gln733Leu) c.1946A>T (p.Gln649Leu) | |
6 | g.33669097G>A | CA449883065 | ITPR3 | c.2130G>A (p.Gln710=) c.2199G>A (p.Gln733=) c.1947G>A (p.Gln649=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669097G>C | CA363698044 | ITPR3 | c.2130G>C (p.Gln710His) c.2199G>C (p.Gln733His) c.1947G>C (p.Gln649His) | |
6 | g.33669097G= | CA1620116773 | ITPR3 | c.2130G= (p.Gln710=) c.2199G= (p.Gln733=) c.1947G= (p.Gln649=) | |
6 | g.33669097G>T | CA363698046 | ITPR3 | c.2130G>T (p.Gln710His) c.2199G>T (p.Gln733His) c.1947G>T (p.Gln649His) | |
6 | g.33669097_33669098insT | CA1087692444 | ITPR3 | c.2130_2131insT (p.Leu711SerfsTer?) c.2199_2200insT (p.Leu734SerfsTer?) c.1947_1948insT (p.Leu650SerfsTer?) | gnomAD v3 gnomAD v4 |
6 | g.33669098C>A | CA363698048 | ITPR3 | c.2131C>A (p.Leu711Met) c.2200C>A (p.Leu734Met) c.1948C>A (p.Leu650Met) | |
6 | g.33669098C= | CA1620116774 | ITPR3 | c.2131C= (p.Leu711=) c.2200C= (p.Leu734=) c.1948C= (p.Leu650=) | |
6 | g.33669098C>G | CA363698050 | ITPR3 | c.2131C>G (p.Leu711Val) c.2200C>G (p.Leu734Val) c.1948C>G (p.Leu650Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669098C>T | CA449883073 | ITPR3 | c.2131C>T (p.Leu711=) c.2200C>T (p.Leu734=) c.1948C>T (p.Leu650=) | |
6 | g.33669099T>A | CA363698053 | ITPR3 | c.2132T>A (p.Leu711Gln) c.2201T>A (p.Leu734Gln) c.1949T>A (p.Leu650Gln) | |
6 | g.33669099T>C | CA363698054 | ITPR3 | c.2132T>C (p.Leu711Pro) c.2201T>C (p.Leu734Pro) c.1949T>C (p.Leu650Pro) | dbSNP gnomAD v4 |
6 | g.33669099T>G | CA363698056 | ITPR3 | c.2132T>G (p.Leu711Arg) c.2201T>G (p.Leu734Arg) c.1949T>G (p.Leu650Arg) | |
6 | g.33669099T= | CA1620116775 | ITPR3 | c.2132T= (p.Leu711=) c.2201T= (p.Leu734=) c.1949T= (p.Leu650=) | |
6 | g.33669099_33669105del | CA1087692445 | ITPR3 | c.2132_2138del (p.Leu711ArgfsTer21) c.2201_2207del (p.Leu734ArgfsTer21) c.1949_1955del (p.Leu650ArgfsTer21) | gnomAD v3 gnomAD v4 |
6 | g.33669100G>A | CA449883078 | ITPR3 | c.2133G>A (p.Leu711=) c.2202G>A (p.Leu734=) c.1950G>A (p.Leu650=) | gnomAD v4 |
6 | g.33669100G>C | CA449883081 | ITPR3 | c.2133G>C (p.Leu711=) c.2202G>C (p.Leu734=) c.1950G>C (p.Leu650=) | |
6 | g.33669100G>T | CA449883080 | ITPR3 | c.2133G>T (p.Leu711=) c.2202G>T (p.Leu734=) c.1950G>T (p.Leu650=) | gnomAD v4 |
6 | g.33669101G>A | CA363698059 | ITPR3 | c.2134G>A (p.Ala712Thr) c.2203G>A (p.Ala735Thr) c.1951G>A (p.Ala651Thr) | |
6 | g.33669101G>C | CA363698062 | ITPR3 | c.2134G>C (p.Ala712Pro) c.2203G>C (p.Ala735Pro) c.1951G>C (p.Ala651Pro) | |
6 | g.33669101G>T | CA363698060 | ITPR3 | c.2134G>T (p.Ala712Ser) c.2203G>T (p.Ala735Ser) c.1951G>T (p.Ala651Ser) | |
6 | g.33669102C>A | CA363698063 | ITPR3 | c.2135C>A (p.Ala712Asp) c.2204C>A (p.Ala735Asp) c.1952C>A (p.Ala651Asp) | |
6 | g.33669102C= | CA1620116776 | ITPR3 | c.2135C= (p.Ala712=) c.2204C= (p.Ala735=) c.1952C= (p.Ala651=) | |
6 | g.33669102C>G | CA363698065 | ITPR3 | c.2135C>G (p.Ala712Gly) c.2204C>G (p.Ala735Gly) c.1952C>G (p.Ala651Gly) | |
6 | g.33669102C>T | CA363698067 | ITPR3 | c.2135C>T (p.Ala712Val) c.2204C>T (p.Ala735Val) c.1952C>T (p.Ala651Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669103C>A | CA3760477 | ITPR3 | c.2136C>A (p.Ala712=) c.2205C>A (p.Ala735=) c.1953C>A (p.Ala651=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669103C= | CA1620116777 | ITPR3 | c.2136C= (p.Ala712=) c.2205C= (p.Ala735=) c.1953C= (p.Ala651=) | |
6 | g.33669103C>G | CA449883091 | ITPR3 | c.2136C>G (p.Ala712=) c.2205C>G (p.Ala735=) c.1953C>G (p.Ala651=) | |
6 | g.33669103C>T | CA449883092 | ITPR3 | c.2136C>T (p.Ala712=) c.2205C>T (p.Ala735=) c.1953C>T (p.Ala651=) | gnomAD v4 |
6 | g.33669104C>A | CA363698071 | ITPR3 | c.2137C>A (p.Gln713Lys) c.2206C>A (p.Gln736Lys) c.1954C>A (p.Gln652Lys) | |
6 | g.33669104C= | CA1620116778 | ITPR3 | c.2137C= (p.Gln713=) c.2206C= (p.Gln736=) c.1954C= (p.Gln652=) | |
6 | g.33669104C>G | CA363698072 | ITPR3 | c.2137C>G (p.Gln713Glu) c.2206C>G (p.Gln736Glu) c.1954C>G (p.Gln652Glu) | |
6 | g.33669104C>T | CA363698074 | ITPR3 | c.2137C>T (p.Gln713Ter) c.2206C>T (p.Gln736Ter) c.1954C>T (p.Gln652Ter) | dbSNP |
6 | g.33669105A= | CA1620116779 | ITPR3 | c.2138A= (p.Gln713=) c.2207A= (p.Gln736=) c.1955A= (p.Gln652=) | |
6 | g.33669105A>C | CA363698075 | ITPR3 | c.2138A>C (p.Gln713Pro) c.2207A>C (p.Gln736Pro) c.1955A>C (p.Gln652Pro) | |
6 | g.33669105A>G | CA363698076 | ITPR3 | c.2138A>G (p.Gln713Arg) c.2207A>G (p.Gln736Arg) c.1955A>G (p.Gln652Arg) | |
6 | g.33669105A>T | CA363698077 | ITPR3 | c.2138A>T (p.Gln713Leu) c.2207A>T (p.Gln736Leu) c.1955A>T (p.Gln652Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669106G>A | CA449883100 | ITPR3 | c.2139G>A (p.Gln713=) c.2208G>A (p.Gln736=) c.1956G>A (p.Gln652=) | |
6 | g.33669106G>C | CA363698078 | ITPR3 | c.2139G>C (p.Gln713His) c.2208G>C (p.Gln736His) c.1956G>C (p.Gln652His) | |
6 | g.33669106G>T | CA363698080 | ITPR3 | c.2139G>T (p.Gln713His) c.2208G>T (p.Gln736His) c.1956G>T (p.Gln652His) | |
6 | g.33669108_33669120del | CA2678292970 | ITPR3 | c.2141_2153del (p.Glu714AlafsTer16) c.2210_2222del (p.Glu737AlafsTer16) c.1958_1970del (p.Glu653AlafsTer16) | gnomAD v4 |
6 | g.33669107G>A | CA3760478 | ITPR3 | c.2140G>A (p.Glu714Lys) c.2209G>A (p.Glu737Lys) c.1957G>A (p.Glu653Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669107G>C | CA363698083 | ITPR3 | c.2140G>C (p.Glu714Gln) c.2209G>C (p.Glu737Gln) c.1957G>C (p.Glu653Gln) | |
6 | g.33669107G= | CA1620116780 | ITPR3 | c.2140G= (p.Glu714=) c.2209G= (p.Glu737=) c.1957G= (p.Glu653=) | |
6 | g.33669107G>T | CA363698085 | ITPR3 | c.2140G>T (p.Glu714Ter) c.2209G>T (p.Glu737Ter) c.1957G>T (p.Glu653Ter) | |
6 | g.33669107_33669108insTGT | CA1087692451 | ITPR3 | c.2140_2141insTGT (p.Glu714ValfsTer2) c.2209_2210insTGT (p.Glu737ValfsTer2) c.1957_1958insTGT (p.Glu653ValfsTer2) | gnomAD v3 gnomAD v4 |
6 | g.33669108del | CA2770578086 | ITPR3 | c.2141del (p.Glu714GlyfsTer20) c.2210del (p.Glu737GlyfsTer20) c.1958del (p.Glu653GlyfsTer20) | |
6 | g.33669108A>C | CA363698088 | ITPR3 | c.2141A>C (p.Glu714Ala) c.2210A>C (p.Glu737Ala) c.1958A>C (p.Glu653Ala) | |
6 | g.33669108A>G | CA363698089 | ITPR3 | c.2141A>G (p.Glu714Gly) c.2210A>G (p.Glu737Gly) c.1958A>G (p.Glu653Gly) | |
6 | g.33669108A>T | CA363698091 | ITPR3 | c.2141A>T (p.Glu714Val) c.2210A>T (p.Glu737Val) c.1958A>T (p.Glu653Val) | gnomAD v4 |
6 | g.33669109G>A | CA449883108 | ITPR3 | c.2142G>A (p.Glu714=) c.2211G>A (p.Glu737=) c.1959G>A (p.Glu653=) | |
6 | g.33669109G>C | CA363698093 | ITPR3 | c.2142G>C (p.Glu714Asp) c.2211G>C (p.Glu737Asp) c.1959G>C (p.Glu653Asp) | |
6 | g.33669109G>T | CA363698095 | ITPR3 | c.2142G>T (p.Glu714Asp) c.2211G>T (p.Glu737Asp) c.1959G>T (p.Glu653Asp) | gnomAD v4 |
6 | g.33669109_33669110insA | CA1087692454 | ITPR3 | c.2142_2143insA (p.Ala715SerfsTer?) c.2211_2212insA (p.Ala738SerfsTer?) c.1959_1960insA (p.Ala654SerfsTer?) | gnomAD v3 gnomAD v4 |
6 | g.33669110G>A | CA363698097 | ITPR3 | c.2143G>A (p.Ala715Thr) c.2212G>A (p.Ala738Thr) c.1960G>A (p.Ala654Thr) | |
6 | g.33669110G>C | CA363698099 | ITPR3 | c.2143G>C (p.Ala715Pro) c.2212G>C (p.Ala738Pro) c.1960G>C (p.Ala654Pro) | |
6 | g.33669110G>T | CA363698101 | ITPR3 | c.2143G>T (p.Ala715Ser) c.2212G>T (p.Ala738Ser) c.1960G>T (p.Ala654Ser) | gnomAD v3 gnomAD v4 |
6 | g.33669111C>A | CA3760479 | ITPR3 | c.2144C>A (p.Ala715Glu) c.2213C>A (p.Ala738Glu) c.1961C>A (p.Ala654Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669111C= | CA1620116782 | ITPR3 | c.2144C= (p.Ala715=) c.2213C= (p.Ala738=) c.1961C= (p.Ala654=) | |
6 | g.33669111C>G | CA363698104 | ITPR3 | c.2144C>G (p.Ala715Gly) c.2213C>G (p.Ala738Gly) c.1961C>G (p.Ala654Gly) | |
6 | g.33669111C>T | CA3760480 | ITPR3 | c.2144C>T (p.Ala715Val) c.2213C>T (p.Ala738Val) c.1961C>T (p.Ala654Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669111_33669135delinsCGCGGGCCGGCAACGCCCACGACGA | CA1620116781 | ITPR3 | c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA (p.Ala715=) c.2213_2237delinsCGCGGGCCGGCAACGCCCACGACGA (p.Ala738=) c.1961_1985delinsCGCGGGCCGGCAACGCCCACGACGA (p.Ala654=) | |
6 | g.33669112G>A | CA137130671 | ITPR3 | c.2145G>A (p.Ala715=) c.2214G>A (p.Ala738=) c.1962G>A (p.Ala654=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669112G>C | CA449883120 | ITPR3 | c.2145G>C (p.Ala715=) c.2214G>C (p.Ala738=) c.1962G>C (p.Ala654=) | |
6 | g.33669112G= | CA1620116783 | ITPR3 | c.2145G= (p.Ala715=) c.2214G= (p.Ala738=) c.1962G= (p.Ala654=) | |
6 | g.33669112G>T | CA449883122 | ITPR3 | c.2145G>T (p.Ala715=) c.2214G>T (p.Ala738=) c.1962G>T (p.Ala654=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669113_33669136del | CA824071460 | ITPR3 | c.2146_2169del (p.Arg716_Glu723del) c.2215_2238del (p.Arg739_Glu746del) c.1963_1986del (p.Arg655_Glu662del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669113C>A | CA449883123 | ITPR3 | c.2146C>A (p.Arg716=) c.2215C>A (p.Arg739=) c.1963C>A (p.Arg655=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669113C= | CA1620116784 | ITPR3 | c.2146C= (p.Arg716=) c.2215C= (p.Arg739=) c.1963C= (p.Arg655=) | |
6 | g.33669113C>G | CA363698106 | ITPR3 | c.2146C>G (p.Arg716Gly) c.2215C>G (p.Arg739Gly) c.1963C>G (p.Arg655Gly) | |
6 | g.33669113C>T | CA3760481 | ITPR3 | c.2146C>T (p.Arg716Trp) c.2215C>T (p.Arg739Trp) c.1963C>T (p.Arg655Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669114G>A | CA3760482 | ITPR3 | c.2147G>A (p.Arg716Gln) c.2216G>A (p.Arg739Gln) c.1964G>A (p.Arg655Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669114G>C | CA363698108 | ITPR3 | c.2147G>C (p.Arg716Pro) c.2216G>C (p.Arg739Pro) c.1964G>C (p.Arg655Pro) | gnomAD v4 |
6 | g.33669114G= | CA1620116785 | ITPR3 | c.2147G= (p.Arg716=) c.2216G= (p.Arg739=) c.1964G= (p.Arg655=) | |
6 | g.33669114G>T | CA363698110 | ITPR3 | c.2147G>T (p.Arg716Leu) c.2216G>T (p.Arg739Leu) c.1964G>T (p.Arg655Leu) | gnomAD v4 |
6 | g.33669116dup | CA2578586536 | ITPR3 | c.2149dup (p.Ala717GlyfsTer?) c.2218dup (p.Ala740GlyfsTer?) c.1966dup (p.Ala656GlyfsTer?) | |
6 | g.33669115G>A | CA449883130 | ITPR3 | c.2148G>A (p.Arg716=) c.2217G>A (p.Arg739=) c.1965G>A (p.Arg655=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669115G>C | CA449883133 | ITPR3 | c.2148G>C (p.Arg716=) c.2217G>C (p.Arg739=) c.1965G>C (p.Arg655=) | |
6 | g.33669115G= | CA1620116786 | ITPR3 | c.2148G= (p.Arg716=) c.2217G= (p.Arg739=) c.1965G= (p.Arg655=) | |
6 | g.33669115G>T | CA449883135 | ITPR3 | c.2148G>T (p.Arg716=) c.2217G>T (p.Arg739=) c.1965G>T (p.Arg655=) | |
6 | g.33669115_33669116insTGGTC | CA1087692471 | ITPR3 | c.2148_2149insTGGTC (p.Ala717TrpfsTer19) c.2217_2218insTGGTC (p.Ala740TrpfsTer19) c.1965_1966insTGGTC (p.Ala656TrpfsTer19) | gnomAD v3 gnomAD v4 |
6 | g.33669116G>A | CA363698112 | ITPR3 | c.2149G>A (p.Ala717Thr) c.2218G>A (p.Ala740Thr) c.1966G>A (p.Ala656Thr) | dbSNP gnomAD v2 |
6 | g.33669116G>C | CA363698114 | ITPR3 | c.2149G>C (p.Ala717Pro) c.2218G>C (p.Ala740Pro) c.1966G>C (p.Ala656Pro) | |
6 | g.33669116G= | CA1620116787 | ITPR3 | c.2149G= (p.Ala717=) c.2218G= (p.Ala740=) c.1966G= (p.Ala656=) | |
6 | g.33669116G>T | CA363698117 | ITPR3 | c.2149G>T (p.Ala717Ser) c.2218G>T (p.Ala740Ser) c.1966G>T (p.Ala656Ser) | gnomAD v4 |
6 | g.33669117C>A | CA363698119 | ITPR3 | c.2150C>A (p.Ala717Asp) c.2219C>A (p.Ala740Asp) c.1967C>A (p.Ala656Asp) | |
6 | g.33669117C>G | CA363698121 | ITPR3 | c.2150C>G (p.Ala717Gly) c.2219C>G (p.Ala740Gly) c.1967C>G (p.Ala656Gly) | |
6 | g.33669117C>T | CA363698123 | ITPR3 | c.2150C>T (p.Ala717Val) c.2219C>T (p.Ala740Val) c.1967C>T (p.Ala656Val) | |
6 | g.33669118dup | CA1620116788 | ITPR3 | c.2151dup (p.Gly718ArgfsTer?) c.2220dup (p.Gly741ArgfsTer?) c.1968dup (p.Gly657ArgfsTer?) | dbSNP |
6 | g.33669118C>A | CA3760484 | ITPR3 | c.2151C>A (p.Ala717=) c.2220C>A (p.Ala740=) c.1968C>A (p.Ala656=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669118C= | CA1620116789 | ITPR3 | c.2151C= (p.Ala717=) c.2220C= (p.Ala740=) c.1968C= (p.Ala656=) | |
6 | g.33669118C>G | CA449883144 | ITPR3 | c.2151C>G (p.Ala717=) c.2220C>G (p.Ala740=) c.1968C>G (p.Ala656=) | |
6 | g.33669118C>T | CA3760483 | ITPR3 | c.2151C>T (p.Ala717=) c.2220C>T (p.Ala740=) c.1968C>T (p.Ala656=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669120_33669131del | CA2678292998 | ITPR3 | c.2153_2164del (p.Gly718_His721del) c.2222_2233del (p.Gly741_His744del) c.1970_1981del (p.Gly657_His660del) | gnomAD v4 |
6 | g.33669119G>A | CA3760486 | ITPR3 | c.2152G>A (p.Gly718Ser) c.2221G>A (p.Gly741Ser) c.1969G>A (p.Gly657Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669119G>C | CA363698130 | ITPR3 | c.2152G>C (p.Gly718Arg) c.2221G>C (p.Gly741Arg) c.1969G>C (p.Gly657Arg) | gnomAD v4 |
6 | g.33669119G= | CA1620116790 | ITPR3 | c.2152G= (p.Gly718=) c.2221G= (p.Gly741=) c.1969G= (p.Gly657=) | |
6 | g.33669119G>T | CA3760485 | ITPR3 | c.2152G>T (p.Gly718Cys) c.2221G>T (p.Gly741Cys) c.1969G>T (p.Gly657Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669119_33669120insTA | CA1087692481 | ITPR3 | c.2152_2153insTA (p.Gly718ValfsTer17) c.2221_2222insTA (p.Gly741ValfsTer17) c.1969_1970insTA (p.Gly657ValfsTer17) | gnomAD v3 gnomAD v4 |
6 | g.33669120G>A | CA363698136 | ITPR3 | c.2153G>A (p.Gly718Asp) c.2222G>A (p.Gly741Asp) c.1970G>A (p.Gly657Asp) | dbSNP |
6 | g.33669120G>C | CA363698133 | ITPR3 | c.2153G>C (p.Gly718Ala) c.2222G>C (p.Gly741Ala) c.1970G>C (p.Gly657Ala) | |
6 | g.33669120G= | CA1620116791 | ITPR3 | c.2153G= (p.Gly718=) c.2222G= (p.Gly741=) c.1970G= (p.Gly657=) | |
6 | g.33669120G>T | CA363698135 | ITPR3 | c.2153G>T (p.Gly718Val) c.2222G>T (p.Gly741Val) c.1970G>T (p.Gly657Val) | gnomAD v3 gnomAD v4 |