Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33668999C>A | CA363697602 | ITPR3 | c.2032C>A (p.Gln678Lys) c.2101C>A (p.Gln701Lys) c.1849C>A (p.Gln617Lys) | |
6 | g.33668999C= | CA1620116743 | ITPR3 | c.2032C= (p.Gln678=) c.2101C= (p.Gln701=) c.1849C= (p.Gln617=) | |
6 | g.33668999C>G | CA3760461 | ITPR3 | c.2032C>G (p.Gln678Glu) c.2101C>G (p.Gln701Glu) c.1849C>G (p.Gln617Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33668999C>T | CA363697599 | ITPR3 | c.2032C>T (p.Gln678Ter) c.2101C>T (p.Gln701Ter) c.1849C>T (p.Gln617Ter) | |
6 | g.33669000A>C | CA363697605 | ITPR3 | c.2033A>C (p.Gln678Pro) c.2102A>C (p.Gln701Pro) c.1850A>C (p.Gln617Pro) | |
6 | g.33669000A>G | CA363697607 | ITPR3 | c.2033A>G (p.Gln678Arg) c.2102A>G (p.Gln701Arg) c.1850A>G (p.Gln617Arg) | |
6 | g.33669000A>T | CA363697608 | ITPR3 | c.2033A>T (p.Gln678Leu) c.2102A>T (p.Gln701Leu) c.1850A>T (p.Gln617Leu) | |
6 | g.33669001A>C | CA363697611 | ITPR3 | c.2034A>C (p.Gln678His) c.2103A>C (p.Gln701His) c.1851A>C (p.Gln617His) | |
6 | g.33669001A>G | CA449882527 | ITPR3 | c.2034A>G (p.Gln678=) c.2103A>G (p.Gln701=) c.1851A>G (p.Gln617=) | gnomAD v4 |
6 | g.33669001A>T | CA363697612 | ITPR3 | c.2034A>T (p.Gln678His) c.2103A>T (p.Gln701His) c.1851A>T (p.Gln617His) | |
6 | g.33669002T>A | CA363697613 | ITPR3 | c.2035T>A (p.Ser679Thr) c.2104T>A (p.Ser702Thr) c.1852T>A (p.Ser618Thr) | |
6 | g.33669002T>C | CA363697615 | ITPR3 | c.2035T>C (p.Ser679Pro) c.2104T>C (p.Ser702Pro) c.1852T>C (p.Ser618Pro) | |
6 | g.33669002T>G | CA363697616 | ITPR3 | c.2035T>G (p.Ser679Ala) c.2104T>G (p.Ser702Ala) c.1852T>G (p.Ser618Ala) | |
6 | g.33669003C>A | CA363697618 | ITPR3 | c.2036C>A (p.Ser679Tyr) c.2105C>A (p.Ser702Tyr) c.1853C>A (p.Ser618Tyr) | |
6 | g.33669003C= | CA1620116744 | ITPR3 | c.2036C= (p.Ser679=) c.2105C= (p.Ser702=) c.1853C= (p.Ser618=) | |
6 | g.33669003C>G | CA363697619 | ITPR3 | c.2036C>G (p.Ser679Cys) c.2105C>G (p.Ser702Cys) c.1853C>G (p.Ser618Cys) | |
6 | g.33669003C>T | CA3760462 | ITPR3 | c.2036C>T (p.Ser679Phe) c.2105C>T (p.Ser702Phe) c.1853C>T (p.Ser618Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669004C>A | CA449882534 | ITPR3 | c.2037C>A (p.Ser679=) c.2106C>A (p.Ser702=) c.1854C>A (p.Ser618=) | |
6 | g.33669004C>G | CA449882537 | ITPR3 | c.2037C>G (p.Ser679=) c.2106C>G (p.Ser702=) c.1854C>G (p.Ser618=) | |
6 | g.33669004C>T | CA449882536 | ITPR3 | c.2037C>T (p.Ser679=) c.2106C>T (p.Ser702=) c.1854C>T (p.Ser618=) | |
6 | g.33669005C>A | CA363697623 | ITPR3 | c.2038C>A (p.His680Asn) c.2107C>A (p.His703Asn) c.1855C>A (p.His619Asn) | |
6 | g.33669005C>G | CA363697624 | ITPR3 | c.2038C>G (p.His680Asp) c.2107C>G (p.His703Asp) c.1855C>G (p.His619Asp) | |
6 | g.33669005C>T | CA363697621 | ITPR3 | c.2038C>T (p.His680Tyr) c.2107C>T (p.His703Tyr) c.1855C>T (p.His619Tyr) | |
6 | g.33669006A>C | CA363697627 | ITPR3 | c.2039A>C (p.His680Pro) c.2108A>C (p.His703Pro) c.1856A>C (p.His619Pro) | gnomAD v4 |
6 | g.33669006A>G | CA363697629 | ITPR3 | c.2039A>G (p.His680Arg) c.2108A>G (p.His703Arg) c.1856A>G (p.His619Arg) | |
6 | g.33669006A>T | CA363697630 | ITPR3 | c.2039A>T (p.His680Leu) c.2108A>T (p.His703Leu) c.1856A>T (p.His619Leu) | |
6 | g.33669007C>A | CA363697632 | ITPR3 | c.2040C>A (p.His680Gln) c.2109C>A (p.His703Gln) c.1857C>A (p.His619Gln) | |
6 | g.33669007C>G | CA363697634 | ITPR3 | c.2040C>G (p.His680Gln) c.2109C>G (p.His703Gln) c.1857C>G (p.His619Gln) | gnomAD v4 |
6 | g.33669007C>T | CA449882546 | ITPR3 | c.2040C>T (p.His680=) c.2109C>T (p.His703=) c.1857C>T (p.His619=) | gnomAD v4 |
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.33669008G>A | CA3760463 | ITPR3 | c.2041G>A (p.Glu681Lys) c.2110G>A (p.Glu704Lys) c.1858G>A (p.Glu620Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669008G>C | CA363697636 | ITPR3 | c.2041G>C (p.Glu681Gln) c.2110G>C (p.Glu704Gln) c.1858G>C (p.Glu620Gln) | |
6 | g.33669008G= | CA1620116745 | ITPR3 | c.2041G= (p.Glu681=) c.2110G= (p.Glu704=) c.1858G= (p.Glu620=) | |
6 | g.33669008G>T | CA363697638 | ITPR3 | c.2041G>T (p.Glu681Ter) c.2110G>T (p.Glu704Ter) c.1858G>T (p.Glu620Ter) | |
6 | g.33669009A>C | CA363697642 | ITPR3 | c.2042A>C (p.Glu681Ala) c.2111A>C (p.Glu704Ala) c.1859A>C (p.Glu620Ala) | |
6 | g.33669009A>G | CA363697644 | ITPR3 | c.2042A>G (p.Glu681Gly) c.2111A>G (p.Glu704Gly) c.1859A>G (p.Glu620Gly) | |
6 | g.33669009A>T | CA363697645 | ITPR3 | c.2042A>T (p.Glu681Val) c.2111A>T (p.Glu704Val) c.1859A>T (p.Glu620Val) | |
6 | g.33669010G>A | CA449882554 | ITPR3 | c.2043G>A (p.Glu681=) c.2112G>A (p.Glu704=) c.1860G>A (p.Glu620=) | |
6 | g.33669010G>C | CA363697647 | ITPR3 | c.2043G>C (p.Glu681Asp) c.2112G>C (p.Glu704Asp) c.1860G>C (p.Glu620Asp) | |
6 | g.33669010G>T | CA363697649 | ITPR3 | c.2043G>T (p.Glu681Asp) c.2112G>T (p.Glu704Asp) c.1860G>T (p.Glu620Asp) | |
6 | g.33669011T>A | CA363697650 | ITPR3 | c.2044T>A (p.Tyr682Asn) c.2113T>A (p.Tyr705Asn) c.1861T>A (p.Tyr621Asn) | |
6 | g.33669011T>C | CA363697654 | ITPR3 | c.2044T>C (p.Tyr682His) c.2113T>C (p.Tyr705His) c.1861T>C (p.Tyr621His) | gnomAD v4 |
6 | g.33669011T>G | CA363697652 | ITPR3 | c.2044T>G (p.Tyr682Asp) c.2113T>G (p.Tyr705Asp) c.1861T>G (p.Tyr621Asp) | |
6 | g.33669012A>C | CA363697656 | ITPR3 | c.2045A>C (p.Tyr682Ser) c.2114A>C (p.Tyr705Ser) c.1862A>C (p.Tyr621Ser) | gnomAD v4 |
6 | g.33669012A>G | CA363697658 | ITPR3 | c.2045A>G (p.Tyr682Cys) c.2114A>G (p.Tyr705Cys) c.1862A>G (p.Tyr621Cys) | |
6 | g.33669012A>T | CA363697660 | ITPR3 | c.2045A>T (p.Tyr682Phe) c.2114A>T (p.Tyr705Phe) c.1862A>T (p.Tyr621Phe) | |
6 | g.33669013C>A | CA363697662 | ITPR3 | c.2046C>A (p.Tyr682Ter) c.2115C>A (p.Tyr705Ter) c.1863C>A (p.Tyr621Ter) | |
6 | g.33669013C>G | CA363697663 | ITPR3 | c.2046C>G (p.Tyr682Ter) c.2115C>G (p.Tyr705Ter) c.1863C>G (p.Tyr621Ter) | |
6 | g.33669013C>T | CA449882563 | ITPR3 | c.2046C>T (p.Tyr682=) c.2115C>T (p.Tyr705=) c.1863C>T (p.Tyr621=) | |
6 | g.33669014C>A | CA363697665 | ITPR3 | c.2047C>A (p.Leu683Met) c.2116C>A (p.Leu706Met) c.1864C>A (p.Leu622Met) | gnomAD v4 |
6 | g.33669014C= | CA1620116746 | ITPR3 | c.2047C= (p.Leu683=) c.2116C= (p.Leu706=) c.1864C= (p.Leu622=) | |
6 | g.33669014C>G | CA363697666 | ITPR3 | c.2047C>G (p.Leu683Val) c.2116C>G (p.Leu706Val) c.1864C>G (p.Leu622Val) | |
6 | g.33669014C>T | CA3760464 | ITPR3 | c.2047C>T (p.Leu683=) c.2116C>T (p.Leu706=) c.1864C>T (p.Leu622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669015T>A | CA137130532 | ITPR3 | c.2048T>A (p.Leu683Gln) c.2117T>A (p.Leu706Gln) c.1865T>A (p.Leu622Gln) | dbSNP gnomAD v4 |
6 | g.33669015T>C | CA363697670 | ITPR3 | c.2048T>C (p.Leu683Pro) c.2117T>C (p.Leu706Pro) c.1865T>C (p.Leu622Pro) | gnomAD v4 |
6 | g.33669015T>G | CA363697672 | ITPR3 | c.2048T>G (p.Leu683Arg) c.2117T>G (p.Leu706Arg) c.1865T>G (p.Leu622Arg) | |
6 | g.33669015T= | CA1620116747 | ITPR3 | c.2048T= (p.Leu683=) c.2117T= (p.Leu706=) c.1865T= (p.Leu622=) | |
6 | g.33669016G>A | CA449882569 | ITPR3 | c.2049G>A (p.Leu683=) c.2118G>A (p.Leu706=) c.1866G>A (p.Leu622=) | |
6 | g.33669016G>C | CA449882572 | ITPR3 | c.2049G>C (p.Leu683=) c.2118G>C (p.Leu706=) c.1866G>C (p.Leu622=) | |
6 | g.33669016G>T | CA449882570 | ITPR3 | c.2049G>T (p.Leu683=) c.2118G>T (p.Leu706=) c.1866G>T (p.Leu622=) | |
6 | g.33669017A= | CA1620116748 | ITPR3 | c.2050A= (p.Ser684=) c.2119A= (p.Ser707=) c.1867A= (p.Ser623=) | |
6 | g.33669017A>C | CA3760465 | ITPR3 | c.2050A>C (p.Ser684Arg) c.2119A>C (p.Ser707Arg) c.1867A>C (p.Ser623Arg) | dbSNP ExAC gnomAD v2 |
6 | g.33669017A>G | CA363697676 | ITPR3 | c.2050A>G (p.Ser684Gly) c.2119A>G (p.Ser707Gly) c.1867A>G (p.Ser623Gly) | |
6 | g.33669017A>T | CA363697674 | ITPR3 | c.2050A>T (p.Ser684Cys) c.2119A>T (p.Ser707Cys) c.1867A>T (p.Ser623Cys) | |
6 | g.33669018G>A | CA363697680 | ITPR3 | c.2051G>A (p.Ser684Asn) c.2120G>A (p.Ser707Asn) c.1868G>A (p.Ser623Asn) | |
6 | g.33669018G>C | CA363697682 | ITPR3 | c.2051G>C (p.Ser684Thr) c.2120G>C (p.Ser707Thr) c.1868G>C (p.Ser623Thr) | |
6 | g.33669018G>T | CA363697683 | ITPR3 | c.2051G>T (p.Ser684Ile) c.2120G>T (p.Ser707Ile) c.1868G>T (p.Ser623Ile) | |
6 | g.33669019C>A | CA363697686 | ITPR3 | c.2052C>A (p.Ser684Arg) c.2121C>A (p.Ser707Arg) c.1869C>A (p.Ser623Arg) | |
6 | g.33669019C>G | CA363697688 | ITPR3 | c.2052C>G (p.Ser684Arg) c.2121C>G (p.Ser707Arg) c.1869C>G (p.Ser623Arg) | |
6 | g.33669019C>T | CA449882580 | ITPR3 | c.2052C>T (p.Ser684=) c.2121C>T (p.Ser707=) c.1869C>T (p.Ser623=) | |
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 |