Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33668975C>ACA363697499ITPR3c.2008C>A (p.Leu670Ile)
c.2077C>A (p.Leu693Ile)
c.1825C>A (p.Leu609Ile)
6g.33668975C>GCA363697501ITPR3c.2008C>G (p.Leu670Val)
c.2077C>G (p.Leu693Val)
c.1825C>G (p.Leu609Val)
6g.33668975C>TCA363697497ITPR3c.2008C>T (p.Leu670Phe)
c.2077C>T (p.Leu693Phe)
c.1825C>T (p.Leu609Phe)
6g.33668976T>ACA363697503ITPR3c.2009T>A (p.Leu670His)
c.2078T>A (p.Leu693His)
c.1826T>A (p.Leu609His)
6g.33668976T>CCA363697505ITPR3c.2009T>C (p.Leu670Pro)
c.2078T>C (p.Leu693Pro)
c.1826T>C (p.Leu609Pro)
6g.33668976T>GCA363697506ITPR3c.2009T>G (p.Leu670Arg)
c.2078T>G (p.Leu693Arg)
c.1826T>G (p.Leu609Arg)
6g.33668977T>ACA449882460ITPR3c.2010T>A (p.Leu670=)
c.2079T>A (p.Leu693=)
c.1827T>A (p.Leu609=)
6g.33668977T>CCA449882457ITPR3c.2010T>C (p.Leu670=)
c.2079T>C (p.Leu693=)
c.1827T>C (p.Leu609=)
6g.33668977T>GCA449882459ITPR3c.2010T>G (p.Leu670=)
c.2079T>G (p.Leu693=)
c.1827T>G (p.Leu609=)
6g.33668978C>ACA3760455ITPR3c.2011C>A (p.Arg671=)
c.2080C>A (p.Arg694=)
c.1828C>A (p.Arg610=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668978C=CA1620116733ITPR3c.2011C= (p.Arg671=)
c.2080C= (p.Arg694=)
c.1828C= (p.Arg610=)
6g.33668978C>GCA363697508ITPR3c.2011C>G (p.Arg671Gly)
c.2080C>G (p.Arg694Gly)
c.1828C>G (p.Arg610Gly)
6g.33668978C>TCA3760456ITPR3c.2011C>T (p.Arg671Trp)
c.2080C>T (p.Arg694Trp)
c.1828C>T (p.Arg610Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668979G>ACA3760457ITPR3c.2012G>A (p.Arg671Gln)
c.2081G>A (p.Arg694Gln)
c.1829G>A (p.Arg610Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668979G>CCA363697512ITPR3c.2012G>C (p.Arg671Pro)
c.2081G>C (p.Arg694Pro)
c.1829G>C (p.Arg610Pro)
6g.33668979G=CA1620116734ITPR3c.2012G= (p.Arg671=)
c.2081G= (p.Arg694=)
c.1829G= (p.Arg610=)
6g.33668979G>TCA363697514ITPR3c.2012G>T (p.Arg671Leu)
c.2081G>T (p.Arg694Leu)
c.1829G>T (p.Arg610Leu)
6g.33668980G>ACA449882467ITPR3c.2013G>A (p.Arg671=)
c.2082G>A (p.Arg694=)
c.1830G>A (p.Arg610=)
dbSNP gnomAD v2
6g.33668980G>CCA449882469ITPR3c.2013G>C (p.Arg671=)
c.2082G>C (p.Arg694=)
c.1830G>C (p.Arg610=)
6g.33668980G=CA1620116735ITPR3c.2013G= (p.Arg671=)
c.2082G= (p.Arg694=)
c.1830G= (p.Arg610=)
6g.33668980G>TCA449882471ITPR3c.2013G>T (p.Arg671=)
c.2082G>T (p.Arg694=)
c.1830G>T (p.Arg610=)
6g.33668981C>ACA363697516ITPR3c.2014C>A (p.Pro672Thr)
c.2083C>A (p.Pro695Thr)
c.1831C>A (p.Pro611Thr)
6g.33668981C=CA1620116736ITPR3c.2014C= (p.Pro672=)
c.2083C= (p.Pro695=)
c.1831C= (p.Pro611=)
6g.33668981C>GCA363697518ITPR3c.2014C>G (p.Pro672Ala)
c.2083C>G (p.Pro695Ala)
c.1831C>G (p.Pro611Ala)
6g.33668981C>TCA363697520ITPR3c.2014C>T (p.Pro672Ser)
c.2083C>T (p.Pro695Ser)
c.1831C>T (p.Pro611Ser)
dbSNP gnomAD v3 gnomAD v4
6g.33668982C>ACA363697524ITPR3c.2015C>A (p.Pro672His)
c.2084C>A (p.Pro695His)
c.1832C>A (p.Pro611His)
6g.33668982C>GCA363697526ITPR3c.2015C>G (p.Pro672Arg)
c.2084C>G (p.Pro695Arg)
c.1832C>G (p.Pro611Arg)
6g.33668982C>TCA363697522ITPR3c.2015C>T (p.Pro672Leu)
c.2084C>T (p.Pro695Leu)
c.1832C>T (p.Pro611Leu)
6g.33668983C>ACA449882477ITPR3c.2016C>A (p.Pro672=)
c.2085C>A (p.Pro695=)
c.1833C>A (p.Pro611=)
gnomAD v4
6g.33668983C=CA1620116737ITPR3c.2016C= (p.Pro672=)
c.2085C= (p.Pro695=)
c.1833C= (p.Pro611=)
6g.33668983C>GCA3760458ITPR3c.2016C>G (p.Pro672=)
c.2085C>G (p.Pro695=)
c.1833C>G (p.Pro611=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668983C>TCA449882480ITPR3c.2016C>T (p.Pro672=)
c.2085C>T (p.Pro695=)
c.1833C>T (p.Pro611=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33668984G>ACA3760459ITPR3c.2017G>A (p.Val673Met)
c.2086G>A (p.Val696Met)
c.1834G>A (p.Val612Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668984G>CCA363697531ITPR3c.2017G>C (p.Val673Leu)
c.2086G>C (p.Val696Leu)
c.1834G>C (p.Val612Leu)
dbSNP gnomAD v3 gnomAD v4
6g.33668984G=CA1620116738ITPR3c.2017G= (p.Val673=)
c.2086G= (p.Val696=)
c.1834G= (p.Val612=)
6g.33668984G>TCA363697532ITPR3c.2017G>T (p.Val673Leu)
c.2086G>T (p.Val696Leu)
c.1834G>T (p.Val612Leu)
6g.33668985T>ACA363697535ITPR3c.2018T>A (p.Val673Glu)
c.2087T>A (p.Val696Glu)
c.1835T>A (p.Val612Glu)
6g.33668985T>CCA363697537ITPR3c.2018T>C (p.Val673Ala)
c.2087T>C (p.Val696Ala)
c.1835T>C (p.Val612Ala)
6g.33668985T>GCA363697538ITPR3c.2018T>G (p.Val673Gly)
c.2087T>G (p.Val696Gly)
c.1835T>G (p.Val612Gly)
6g.33668986G>ACA449882487ITPR3c.2019G>A (p.Val673=)
c.2088G>A (p.Val696=)
c.1836G>A (p.Val612=)
6g.33668986G>CCA449882488ITPR3c.2019G>C (p.Val673=)
c.2088G>C (p.Val696=)
c.1836G>C (p.Val612=)
6g.33668986G>TCA449882490ITPR3c.2019G>T (p.Val673=)
c.2088G>T (p.Val696=)
c.1836G>T (p.Val612=)
6g.33668987A>CCA363697541ITPR3c.2020A>C (p.Lys674Gln)
c.2089A>C (p.Lys697Gln)
c.1837A>C (p.Lys613Gln)
6g.33668987A>GCA363697544ITPR3c.2020A>G (p.Lys674Glu)
c.2089A>G (p.Lys697Glu)
c.1837A>G (p.Lys613Glu)
6g.33668987A>TCA363697542ITPR3c.2020A>T (p.Lys674Ter)
c.2089A>T (p.Lys697Ter)
c.1837A>T (p.Lys613Ter)
6g.33668988A=CA1620116739ITPR3c.2021A= (p.Lys674=)
c.2090A= (p.Lys697=)
c.1838A= (p.Lys613=)
6g.33668988A>CCA363697547ITPR3c.2021A>C (p.Lys674Thr)
c.2090A>C (p.Lys697Thr)
c.1838A>C (p.Lys613Thr)
6g.33668988A>GCA363697549ITPR3c.2021A>G (p.Lys674Arg)
c.2090A>G (p.Lys697Arg)
c.1838A>G (p.Lys613Arg)
dbSNP
6g.33668988A>TCA363697551ITPR3c.2021A>T (p.Lys674Met)
c.2090A>T (p.Lys697Met)
c.1838A>T (p.Lys613Met)
6g.33668989G>ACA449882496ITPR3c.2022G>A (p.Lys674=)
c.2091G>A (p.Lys697=)
c.1839G>A (p.Lys613=)
gnomAD v4
6g.33668989G>CCA363697552ITPR3c.2022G>C (p.Lys674Asn)
c.2091G>C (p.Lys697Asn)
c.1839G>C (p.Lys613Asn)
6g.33668989G>TCA363697554ITPR3c.2022G>T (p.Lys674Asn)
c.2091G>T (p.Lys697Asn)
c.1839G>T (p.Lys613Asn)
6g.33668990G>ACA363697560ITPR3c.2023G>A (p.Glu675Lys)
c.2092G>A (p.Glu698Lys)
c.1840G>A (p.Glu614Lys)
6g.33668990G>CCA363697558ITPR3c.2023G>C (p.Glu675Gln)
c.2092G>C (p.Glu698Gln)
c.1840G>C (p.Glu614Gln)
6g.33668990G>TCA363697556ITPR3c.2023G>T (p.Glu675Ter)
c.2092G>T (p.Glu698Ter)
c.1840G>T (p.Glu614Ter)
6g.33668991A>CCA363697565ITPR3c.2024A>C (p.Glu675Ala)
c.2093A>C (p.Glu698Ala)
c.1841A>C (p.Glu614Ala)
6g.33668991A>GCA363697568ITPR3c.2024A>G (p.Glu675Gly)
c.2093A>G (p.Glu698Gly)
c.1841A>G (p.Glu614Gly)
6g.33668991A>TCA363697566ITPR3c.2024A>T (p.Glu675Val)
c.2093A>T (p.Glu698Val)
c.1841A>T (p.Glu614Val)
6g.33668992G>ACA449882504ITPR3c.2025G>A (p.Glu675=)
c.2094G>A (p.Glu698=)
c.1842G>A (p.Glu614=)
gnomAD v4
6g.33668992G>CCA363697570ITPR3c.2025G>C (p.Glu675Asp)
c.2094G>C (p.Glu698Asp)
c.1842G>C (p.Glu614Asp)
6g.33668992G>TCA363697572ITPR3c.2025G>T (p.Glu675Asp)
c.2094G>T (p.Glu698Asp)
c.1842G>T (p.Glu614Asp)
6g.33668993A=CA1620116740ITPR3c.2026A= (p.Met676=)
c.2095A= (p.Met699=)
c.1843A= (p.Met615=)
6g.33668993A>CCA363697574ITPR3c.2026A>C (p.Met676Leu)
c.2095A>C (p.Met699Leu)
c.1843A>C (p.Met615Leu)
6g.33668993A>GCA363697578ITPR3c.2026A>G (p.Met676Val)
c.2095A>G (p.Met699Val)
c.1843A>G (p.Met615Val)
dbSNP gnomAD v2 gnomAD v4
6g.33668993A>TCA363697576ITPR3c.2026A>T (p.Met676Leu)
c.2095A>T (p.Met699Leu)
c.1843A>T (p.Met615Leu)
6g.33668994T>ACA363697580ITPR3c.2027T>A (p.Met676Lys)
c.2096T>A (p.Met699Lys)
c.1844T>A (p.Met615Lys)
6g.33668994T>CCA363697583ITPR3c.2027T>C (p.Met676Thr)
c.2096T>C (p.Met699Thr)
c.1844T>C (p.Met615Thr)
6g.33668994T>GCA363697581ITPR3c.2027T>G (p.Met676Arg)
c.2096T>G (p.Met699Arg)
c.1844T>G (p.Met615Arg)
6g.33668995G>ACA137130494ITPR3c.2028G>A (p.Met676Ile)
c.2097G>A (p.Met699Ile)
c.1845G>A (p.Met615Ile)
dbSNP
6g.33668995G>CCA363697585ITPR3c.2028G>C (p.Met676Ile)
c.2097G>C (p.Met699Ile)
c.1845G>C (p.Met615Ile)
6g.33668995G=CA1620116741ITPR3c.2028G= (p.Met676=)
c.2097G= (p.Met699=)
c.1845G= (p.Met615=)
6g.33668995G>TCA363697586ITPR3c.2028G>T (p.Met676Ile)
c.2097G>T (p.Met699Ile)
c.1845G>T (p.Met615Ile)
6g.33668996G>ACA363697589ITPR3c.2029G>A (p.Ala677Thr)
c.2098G>A (p.Ala700Thr)
c.1846G>A (p.Ala616Thr)
COSMIC COSMIC
6g.33668996G>CCA363697590ITPR3c.2029G>C (p.Ala677Pro)
c.2098G>C (p.Ala700Pro)
c.1846G>C (p.Ala616Pro)
gnomAD v3 gnomAD v4
6g.33668996G=CA1620116742ITPR3c.2029G= (p.Ala677=)
c.2098G= (p.Ala700=)
c.1846G= (p.Ala616=)
6g.33668996G>TCA3760460ITPR3c.2029G>T (p.Ala677Ser)
c.2098G>T (p.Ala700Ser)
c.1846G>T (p.Ala616Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33668997C>ACA363697593ITPR3c.2030C>A (p.Ala677Asp)
c.2099C>A (p.Ala700Asp)
c.1847C>A (p.Ala616Asp)
6g.33668997C>GCA363697594ITPR3c.2030C>G (p.Ala677Gly)
c.2099C>G (p.Ala700Gly)
c.1847C>G (p.Ala616Gly)
COSMIC COSMIC
6g.33668997C>TCA363697596ITPR3c.2030C>T (p.Ala677Val)
c.2099C>T (p.Ala700Val)
c.1847C>T (p.Ala616Val)
6g.33668998C>ACA449882522ITPR3c.2031C>A (p.Ala677=)
c.2100C>A (p.Ala700=)
c.1848C>A (p.Ala616=)
6g.33668998C>GCA449882521ITPR3c.2031C>G (p.Ala677=)
c.2100C>G (p.Ala700=)
c.1848C>G (p.Ala616=)
6g.33668998C>TCA449882519ITPR3c.2031C>T (p.Ala677=)
c.2100C>T (p.Ala700=)
c.1848C>T (p.Ala616=)
gnomAD v3 gnomAD v4
6g.33668999C>ACA363697602ITPR3c.2032C>A (p.Gln678Lys)
c.2101C>A (p.Gln701Lys)
c.1849C>A (p.Gln617Lys)
6g.33668999C=CA1620116743ITPR3c.2032C= (p.Gln678=)
c.2101C= (p.Gln701=)
c.1849C= (p.Gln617=)
6g.33668999C>GCA3760461ITPR3c.2032C>G (p.Gln678Glu)
c.2101C>G (p.Gln701Glu)
c.1849C>G (p.Gln617Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33668999C>TCA363697599ITPR3c.2032C>T (p.Gln678Ter)
c.2101C>T (p.Gln701Ter)
c.1849C>T (p.Gln617Ter)
6g.33669000A>CCA363697605ITPR3c.2033A>C (p.Gln678Pro)
c.2102A>C (p.Gln701Pro)
c.1850A>C (p.Gln617Pro)
6g.33669000A>GCA363697607ITPR3c.2033A>G (p.Gln678Arg)
c.2102A>G (p.Gln701Arg)
c.1850A>G (p.Gln617Arg)
6g.33669000A>TCA363697608ITPR3c.2033A>T (p.Gln678Leu)
c.2102A>T (p.Gln701Leu)
c.1850A>T (p.Gln617Leu)
6g.33669001A>CCA363697611ITPR3c.2034A>C (p.Gln678His)
c.2103A>C (p.Gln701His)
c.1851A>C (p.Gln617His)
6g.33669001A>GCA449882527ITPR3c.2034A>G (p.Gln678=)
c.2103A>G (p.Gln701=)
c.1851A>G (p.Gln617=)
gnomAD v4
6g.33669001A>TCA363697612ITPR3c.2034A>T (p.Gln678His)
c.2103A>T (p.Gln701His)
c.1851A>T (p.Gln617His)
6g.33669002T>ACA363697613ITPR3c.2035T>A (p.Ser679Thr)
c.2104T>A (p.Ser702Thr)
c.1852T>A (p.Ser618Thr)
6g.33669002T>CCA363697615ITPR3c.2035T>C (p.Ser679Pro)
c.2104T>C (p.Ser702Pro)
c.1852T>C (p.Ser618Pro)
6g.33669002T>GCA363697616ITPR3c.2035T>G (p.Ser679Ala)
c.2104T>G (p.Ser702Ala)
c.1852T>G (p.Ser618Ala)
6g.33669003C>ACA363697618ITPR3c.2036C>A (p.Ser679Tyr)
c.2105C>A (p.Ser702Tyr)
c.1853C>A (p.Ser618Tyr)
6g.33669003C=CA1620116744ITPR3c.2036C= (p.Ser679=)
c.2105C= (p.Ser702=)
c.1853C= (p.Ser618=)
6g.33669003C>GCA363697619ITPR3c.2036C>G (p.Ser679Cys)
c.2105C>G (p.Ser702Cys)
c.1853C>G (p.Ser618Cys)
6g.33669003C>TCA3760462ITPR3c.2036C>T (p.Ser679Phe)
c.2105C>T (p.Ser702Phe)
c.1853C>T (p.Ser618Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33669004C>ACA449882534ITPR3c.2037C>A (p.Ser679=)
c.2106C>A (p.Ser702=)
c.1854C>A (p.Ser618=)
6g.33669004C>GCA449882537ITPR3c.2037C>G (p.Ser679=)
c.2106C>G (p.Ser702=)
c.1854C>G (p.Ser618=)
6g.33669004C>TCA449882536ITPR3c.2037C>T (p.Ser679=)
c.2106C>T (p.Ser702=)
c.1854C>T (p.Ser618=)
6g.33669005C>ACA363697623ITPR3c.2038C>A (p.His680Asn)
c.2107C>A (p.His703Asn)
c.1855C>A (p.His619Asn)
6g.33669005C>GCA363697624ITPR3c.2038C>G (p.His680Asp)
c.2107C>G (p.His703Asp)
c.1855C>G (p.His619Asp)
6g.33669005C>TCA363697621ITPR3c.2038C>T (p.His680Tyr)
c.2107C>T (p.His703Tyr)
c.1855C>T (p.His619Tyr)
6g.33669006A>CCA363697627ITPR3c.2039A>C (p.His680Pro)
c.2108A>C (p.His703Pro)
c.1856A>C (p.His619Pro)
gnomAD v4
6g.33669006A>GCA363697629ITPR3c.2039A>G (p.His680Arg)
c.2108A>G (p.His703Arg)
c.1856A>G (p.His619Arg)
6g.33669006A>TCA363697630ITPR3c.2039A>T (p.His680Leu)
c.2108A>T (p.His703Leu)
c.1856A>T (p.His619Leu)
6g.33669007C>ACA363697632ITPR3c.2040C>A (p.His680Gln)
c.2109C>A (p.His703Gln)
c.1857C>A (p.His619Gln)
6g.33669007C>GCA363697634ITPR3c.2040C>G (p.His680Gln)
c.2109C>G (p.His703Gln)
c.1857C>G (p.His619Gln)
gnomAD v4
6g.33669007C>TCA449882546ITPR3c.2040C>T (p.His680=)
c.2109C>T (p.His703=)
c.1857C>T (p.His619=)
gnomAD v4
6g.33669014_33669028delCA2678292847ITPR3c.2047_2061del (p.Leu683_Tyr687del)
c.2116_2130del (p.Leu706_Tyr710del)
c.1864_1878del (p.Leu622_Tyr626del)
gnomAD v4
6g.33669008G>ACA3760463ITPR3c.2041G>A (p.Glu681Lys)
c.2110G>A (p.Glu704Lys)
c.1858G>A (p.Glu620Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33669008G>CCA363697636ITPR3c.2041G>C (p.Glu681Gln)
c.2110G>C (p.Glu704Gln)
c.1858G>C (p.Glu620Gln)
6g.33669008G=CA1620116745ITPR3c.2041G= (p.Glu681=)
c.2110G= (p.Glu704=)
c.1858G= (p.Glu620=)
6g.33669008G>TCA363697638ITPR3c.2041G>T (p.Glu681Ter)
c.2110G>T (p.Glu704Ter)
c.1858G>T (p.Glu620Ter)
6g.33669009A>CCA363697642ITPR3c.2042A>C (p.Glu681Ala)
c.2111A>C (p.Glu704Ala)
c.1859A>C (p.Glu620Ala)
6g.33669009A>GCA363697644ITPR3c.2042A>G (p.Glu681Gly)
c.2111A>G (p.Glu704Gly)
c.1859A>G (p.Glu620Gly)
6g.33669009A>TCA363697645ITPR3c.2042A>T (p.Glu681Val)
c.2111A>T (p.Glu704Val)
c.1859A>T (p.Glu620Val)
6g.33669010G>ACA449882554ITPR3c.2043G>A (p.Glu681=)
c.2112G>A (p.Glu704=)
c.1860G>A (p.Glu620=)
6g.33669010G>CCA363697647ITPR3c.2043G>C (p.Glu681Asp)
c.2112G>C (p.Glu704Asp)
c.1860G>C (p.Glu620Asp)
6g.33669010G>TCA363697649ITPR3c.2043G>T (p.Glu681Asp)
c.2112G>T (p.Glu704Asp)
c.1860G>T (p.Glu620Asp)
6g.33669011T>ACA363697650ITPR3c.2044T>A (p.Tyr682Asn)
c.2113T>A (p.Tyr705Asn)
c.1861T>A (p.Tyr621Asn)
6g.33669011T>CCA363697654ITPR3c.2044T>C (p.Tyr682His)
c.2113T>C (p.Tyr705His)
c.1861T>C (p.Tyr621His)
gnomAD v4
6g.33669011T>GCA363697652ITPR3c.2044T>G (p.Tyr682Asp)
c.2113T>G (p.Tyr705Asp)
c.1861T>G (p.Tyr621Asp)
6g.33669012A>CCA363697656ITPR3c.2045A>C (p.Tyr682Ser)
c.2114A>C (p.Tyr705Ser)
c.1862A>C (p.Tyr621Ser)
gnomAD v4
6g.33669012A>GCA363697658ITPR3c.2045A>G (p.Tyr682Cys)
c.2114A>G (p.Tyr705Cys)
c.1862A>G (p.Tyr621Cys)
6g.33669012A>TCA363697660ITPR3c.2045A>T (p.Tyr682Phe)
c.2114A>T (p.Tyr705Phe)
c.1862A>T (p.Tyr621Phe)
6g.33669013C>ACA363697662ITPR3c.2046C>A (p.Tyr682Ter)
c.2115C>A (p.Tyr705Ter)
c.1863C>A (p.Tyr621Ter)
6g.33669013C>GCA363697663ITPR3c.2046C>G (p.Tyr682Ter)
c.2115C>G (p.Tyr705Ter)
c.1863C>G (p.Tyr621Ter)
6g.33669013C>TCA449882563ITPR3c.2046C>T (p.Tyr682=)
c.2115C>T (p.Tyr705=)
c.1863C>T (p.Tyr621=)
6g.33669014C>ACA363697665ITPR3c.2047C>A (p.Leu683Met)
c.2116C>A (p.Leu706Met)
c.1864C>A (p.Leu622Met)
gnomAD v4
6g.33669014C=CA1620116746ITPR3c.2047C= (p.Leu683=)
c.2116C= (p.Leu706=)
c.1864C= (p.Leu622=)
6g.33669014C>GCA363697666ITPR3c.2047C>G (p.Leu683Val)
c.2116C>G (p.Leu706Val)
c.1864C>G (p.Leu622Val)
6g.33669014C>TCA3760464ITPR3c.2047C>T (p.Leu683=)
c.2116C>T (p.Leu706=)
c.1864C>T (p.Leu622=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33669015T>ACA137130532ITPR3c.2048T>A (p.Leu683Gln)
c.2117T>A (p.Leu706Gln)
c.1865T>A (p.Leu622Gln)
dbSNP gnomAD v4
6g.33669015T>CCA363697670ITPR3c.2048T>C (p.Leu683Pro)
c.2117T>C (p.Leu706Pro)
c.1865T>C (p.Leu622Pro)
gnomAD v4
6g.33669015T>GCA363697672ITPR3c.2048T>G (p.Leu683Arg)
c.2117T>G (p.Leu706Arg)
c.1865T>G (p.Leu622Arg)
6g.33669015T=CA1620116747ITPR3c.2048T= (p.Leu683=)
c.2117T= (p.Leu706=)
c.1865T= (p.Leu622=)
6g.33669016G>ACA449882569ITPR3c.2049G>A (p.Leu683=)
c.2118G>A (p.Leu706=)
c.1866G>A (p.Leu622=)
6g.33669016G>CCA449882572ITPR3c.2049G>C (p.Leu683=)
c.2118G>C (p.Leu706=)
c.1866G>C (p.Leu622=)
6g.33669016G>TCA449882570ITPR3c.2049G>T (p.Leu683=)
c.2118G>T (p.Leu706=)
c.1866G>T (p.Leu622=)
6g.33669017A=CA1620116748ITPR3c.2050A= (p.Ser684=)
c.2119A= (p.Ser707=)
c.1867A= (p.Ser623=)
6g.33669017A>CCA3760465ITPR3c.2050A>C (p.Ser684Arg)
c.2119A>C (p.Ser707Arg)
c.1867A>C (p.Ser623Arg)
dbSNP ExAC gnomAD v2
6g.33669017A>GCA363697676ITPR3c.2050A>G (p.Ser684Gly)
c.2119A>G (p.Ser707Gly)
c.1867A>G (p.Ser623Gly)
6g.33669017A>TCA363697674ITPR3c.2050A>T (p.Ser684Cys)
c.2119A>T (p.Ser707Cys)
c.1867A>T (p.Ser623Cys)
6g.33669018G>ACA363697680ITPR3c.2051G>A (p.Ser684Asn)
c.2120G>A (p.Ser707Asn)
c.1868G>A (p.Ser623Asn)
6g.33669018G>CCA363697682ITPR3c.2051G>C (p.Ser684Thr)
c.2120G>C (p.Ser707Thr)
c.1868G>C (p.Ser623Thr)
6g.33669018G>TCA363697683ITPR3c.2051G>T (p.Ser684Ile)
c.2120G>T (p.Ser707Ile)
c.1868G>T (p.Ser623Ile)
6g.33669019C>ACA363697686ITPR3c.2052C>A (p.Ser684Arg)
c.2121C>A (p.Ser707Arg)
c.1869C>A (p.Ser623Arg)
6g.33669019C>GCA363697688ITPR3c.2052C>G (p.Ser684Arg)
c.2121C>G (p.Ser707Arg)
c.1869C>G (p.Ser623Arg)
6g.33669019C>TCA449882580ITPR3c.2052C>T (p.Ser684=)
c.2121C>T (p.Ser707=)
c.1869C>T (p.Ser623=)
6g.33669020A>CCA363697689ITPR3c.2053A>C (p.Ile685Leu)
c.2122A>C (p.Ile708Leu)
c.1870A>C (p.Ile624Leu)
6g.33669020A>GCA363697690ITPR3c.2053A>G (p.Ile685Val)
c.2122A>G (p.Ile708Val)
c.1870A>G (p.Ile624Val)
gnomAD v4
6g.33669020A>TCA363697692ITPR3c.2053A>T (p.Ile685Phe)
c.2122A>T (p.Ile708Phe)
c.1870A>T (p.Ile624Phe)
dbSNP gnomAD v3 gnomAD v4
6g.33669021T>ACA363697694ITPR3c.2054T>A (p.Ile685Asn)
c.2123T>A (p.Ile708Asn)
c.1871T>A (p.Ile624Asn)
6g.33669021T>CCA363697695ITPR3c.2054T>C (p.Ile685Thr)
c.2123T>C (p.Ile708Thr)
c.1871T>C (p.Ile624Thr)
6g.33669021T>GCA363697697ITPR3c.2054T>G (p.Ile685Ser)
c.2123T>G (p.Ile708Ser)
c.1871T>G (p.Ile624Ser)
6g.33669022C>ACA449882586ITPR3c.2055C>A (p.Ile685=)
c.2124C>A (p.Ile708=)
c.1872C>A (p.Ile624=)
6g.33669022C=CA1620116749ITPR3c.2055C= (p.Ile685=)
c.2124C= (p.Ile708=)
c.1872C= (p.Ile624=)
6g.33669022C>GCA363697699ITPR3c.2055C>G (p.Ile685Met)
c.2124C>G (p.Ile708Met)
c.1872C>G (p.Ile624Met)
6g.33669022C>TCA3760466ITPR3c.2055C>T (p.Ile685=)
c.2124C>T (p.Ile708=)
c.1872C>T (p.Ile624=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33669023G>ACA363697706ITPR3c.2056G>A (p.Glu686Lys)
c.2125G>A (p.Glu709Lys)
c.1873G>A (p.Glu625Lys)
dbSNP gnomAD v2 gnomAD v4
6g.33669023G>CCA363697705ITPR3c.2056G>C (p.Glu686Gln)
c.2125G>C (p.Glu709Gln)
c.1873G>C (p.Glu625Gln)
gnomAD v4
6g.33669023G=CA1620116750ITPR3c.2056G= (p.Glu686=)
c.2125G= (p.Glu709=)
c.1873G= (p.Glu625=)
6g.33669023G>TCA363697703ITPR3c.2056G>T (p.Glu686Ter)
c.2125G>T (p.Glu709Ter)
c.1873G>T (p.Glu625Ter)
6g.33669024A>CCA363697708ITPR3c.2057A>C (p.Glu686Ala)
c.2126A>C (p.Glu709Ala)
c.1874A>C (p.Glu625Ala)
6g.33669024A>GCA363697710ITPR3c.2057A>G (p.Glu686Gly)
c.2126A>G (p.Glu709Gly)
c.1874A>G (p.Glu625Gly)
6g.33669024A>TCA363697711ITPR3c.2057A>T (p.Glu686Val)
c.2126A>T (p.Glu709Val)
c.1874A>T (p.Glu625Val)
6g.33669025G>ACA449882594ITPR3c.2058G>A (p.Glu686=)
c.2127G>A (p.Glu709=)
c.1875G>A (p.Glu625=)
6g.33669025G>CCA363697712ITPR3c.2058G>C (p.Glu686Asp)
c.2127G>C (p.Glu709Asp)
c.1875G>C (p.Glu625Asp)
6g.33669025G>TCA363697714ITPR3c.2058G>T (p.Glu686Asp)
c.2127G>T (p.Glu709Asp)
c.1875G>T (p.Glu625Asp)
6g.33669026T>ACA363697718ITPR3c.2059T>A (p.Tyr687Asn)
c.2128T>A (p.Tyr710Asn)
c.1876T>A (p.Tyr626Asn)
6g.33669026T>CCA363697721ITPR3c.2059T>C (p.Tyr687His)
c.2128T>C (p.Tyr710His)
c.1876T>C (p.Tyr626His)
6g.33669026T>GCA363697724ITPR3c.2059T>G (p.Tyr687Asp)
c.2128T>G (p.Tyr710Asp)
c.1876T>G (p.Tyr626Asp)
6g.33669027A>CCA363697725ITPR3c.2060A>C (p.Tyr687Ser)
c.2129A>C (p.Tyr710Ser)
c.1877A>C (p.Tyr626Ser)
6g.33669027A>GCA363697726ITPR3c.2060A>G (p.Tyr687Cys)
c.2129A>G (p.Tyr710Cys)
c.1877A>G (p.Tyr626Cys)
6g.33669027A>TCA363697727ITPR3c.2060A>T (p.Tyr687Phe)
c.2129A>T (p.Tyr710Phe)
c.1877A>T (p.Tyr626Phe)
6g.33669028C>ACA363697729ITPR3c.2061C>A (p.Tyr687Ter)
c.2130C>A (p.Tyr710Ter)
c.1878C>A (p.Tyr626Ter)
6g.33669028C>GCA363697731ITPR3c.2061C>G (p.Tyr687Ter)
c.2130C>G (p.Tyr710Ter)
c.1878C>G (p.Tyr626Ter)
6g.33669028C>TCA449882603ITPR3c.2061C>T (p.Tyr687=)
c.2130C>T (p.Tyr710=)
c.1878C>T (p.Tyr626=)
gnomAD v4
6g.33669029T>ACA363697735ITPR3c.2062T>A (p.Ser688Thr)
c.2131T>A (p.Ser711Thr)
c.1879T>A (p.Ser627Thr)
6g.33669029T>CCA363697737ITPR3c.2062T>C (p.Ser688Pro)
c.2131T>C (p.Ser711Pro)
c.1879T>C (p.Ser627Pro)
dbSNP
6g.33669029T>GCA363697733ITPR3c.2062T>G (p.Ser688Ala)
c.2131T>G (p.Ser711Ala)
c.1879T>G (p.Ser627Ala)
gnomAD v4
6g.33669029T=CA1620116751ITPR3c.2062T= (p.Ser688=)
c.2131T= (p.Ser711=)
c.1879T= (p.Ser627=)
6g.33669030C>ACA363697739ITPR3c.2063C>A (p.Ser688Ter)
c.2132C>A (p.Ser711Ter)
c.1880C>A (p.Ser627Ter)
6g.33669030C>GCA363697740ITPR3c.2063C>G (p.Ser688Ter)
c.2132C>G (p.Ser711Ter)
c.1880C>G (p.Ser627Ter)
6g.33669030C>TCA363697741ITPR3c.2063C>T (p.Ser688Leu)
c.2132C>T (p.Ser711Leu)
c.1880C>T (p.Ser627Leu)
6g.33669031A>CCA449882610ITPR3c.2064A>C (p.Ser688=)
c.2133A>C (p.Ser711=)
c.1881A>C (p.Ser627=)
6g.33669031A>GCA449882612ITPR3c.2064A>G (p.Ser688=)
c.2133A>G (p.Ser711=)
c.1881A>G (p.Ser627=)
6g.33669031A>TCA449882614ITPR3c.2064A>T (p.Ser688=)
c.2133A>T (p.Ser711=)
c.1881A>T (p.Ser627=)
6g.33669032G>ACA363697743ITPR3c.2065G>A (p.Glu689Lys)
c.2134G>A (p.Glu712Lys)
c.1882G>A (p.Glu628Lys)
6g.33669032G>CCA363697744ITPR3c.2065G>C (p.Glu689Gln)
c.2134G>C (p.Glu712Gln)
c.1882G>C (p.Glu628Gln)
6g.33669032G>TCA363697746ITPR3c.2065G>T (p.Glu689Ter)
c.2134G>T (p.Glu712Ter)
c.1882G>T (p.Glu628Ter)
6g.33669033A=CA1620116752ITPR3c.2066A= (p.Glu689=)
c.2135A= (p.Glu712=)
c.1883A= (p.Glu628=)
6g.33669033A>CCA363697749ITPR3c.2066A>C (p.Glu689Ala)
c.2135A>C (p.Glu712Ala)
c.1883A>C (p.Glu628Ala)
6g.33669033A>GCA3760467ITPR3c.2066A>G (p.Glu689Gly)
c.2135A>G (p.Glu712Gly)
c.1883A>G (p.Glu628Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33669033A>TCA363697752ITPR3c.2066A>T (p.Glu689Val)
c.2135A>T (p.Glu712Val)
c.1883A>T (p.Glu628Val)
6g.33669034A>CCA363697754ITPR3c.2067A>C (p.Glu689Asp)
c.2136A>C (p.Glu712Asp)
c.1884A>C (p.Glu628Asp)
6g.33669034A>GCA449882622ITPR3c.2067A>G (p.Glu689=)
c.2136A>G (p.Glu712=)
c.1884A>G (p.Glu628=)
6g.33669034A>TCA363697756ITPR3c.2067A>T (p.Glu689Asp)
c.2136A>T (p.Glu712Asp)
c.1884A>T (p.Glu628Asp)
6g.33669035G>ACA363697760ITPR3c.2068G>A (p.Glu690Lys)
c.2137G>A (p.Glu713Lys)
c.1885G>A (p.Glu629Lys)
6g.33669035G>CCA363697759ITPR3c.2068G>C (p.Glu690Gln)
c.2137G>C (p.Glu713Gln)
c.1885G>C (p.Glu629Gln)
6g.33669035G>TCA363697757ITPR3c.2068G>T (p.Glu690Ter)
c.2137G>T (p.Glu713Ter)
c.1885G>T (p.Glu629Ter)
6g.33669036A>CCA363697762ITPR3c.2069A>C (p.Glu690Ala)
c.2138A>C (p.Glu713Ala)
c.1886A>C (p.Glu629Ala)
6g.33669036A>GCA363697763ITPR3c.2069A>G (p.Glu690Gly)
c.2138A>G (p.Glu713Gly)
c.1886A>G (p.Glu629Gly)
6g.33669036A>TCA363697764ITPR3c.2069A>T (p.Glu690Val)
c.2138A>T (p.Glu713Val)
c.1886A>T (p.Glu629Val)
6g.33669037G>ACA449882629ITPR3c.2070G>A (p.Glu690=)
c.2139G>A (p.Glu713=)
c.1887G>A (p.Glu629=)
dbSNP
6g.33669037G>CCA363697765ITPR3c.2070G>C (p.Glu690Asp)
c.2139G>C (p.Glu713Asp)
c.1887G>C (p.Glu629Asp)
6g.33669037G=CA1620116753ITPR3c.2070G= (p.Glu690=)
c.2139G= (p.Glu713=)
c.1887G= (p.Glu629=)
6g.33669037G>TCA363697766ITPR3c.2070G>T (p.Glu690Asp)
c.2139G>T (p.Glu713Asp)
c.1887G>T (p.Glu629Asp)
6g.33669038G>ACA363697767ITPR3c.2071G>A (p.Glu691Lys)
c.2140G>A (p.Glu714Lys)
c.1888G>A (p.Glu630Lys)
gnomAD v4
6g.33669038G>CCA363697768ITPR3c.2071G>C (p.Glu691Gln)
c.2140G>C (p.Glu714Gln)
c.1888G>C (p.Glu630Gln)
6g.33669038G>TCA363697770ITPR3c.2071G>T (p.Glu691Ter)
c.2140G>T (p.Glu714Ter)
c.1888G>T (p.Glu630Ter)
6g.33669039A=CA1620116754ITPR3c.2072A= (p.Glu691=)
c.2141A= (p.Glu714=)
c.1889A= (p.Glu630=)
6g.33669039A>CCA363697772ITPR3c.2072A>C (p.Glu691Ala)
c.2141A>C (p.Glu714Ala)
c.1889A>C (p.Glu630Ala)
6g.33669039A>GCA363697774ITPR3c.2072A>G (p.Glu691Gly)
c.2141A>G (p.Glu714Gly)
c.1889A>G (p.Glu630Gly)
dbSNP
6g.33669039A>TCA363697775ITPR3c.2072A>T (p.Glu691Val)
c.2141A>T (p.Glu714Val)
c.1889A>T (p.Glu630Val)
6g.33669040A>CCA363697776ITPR3c.2073A>C (p.Glu691Asp)
c.2142A>C (p.Glu714Asp)
c.1890A>C (p.Glu630Asp)
6g.33669040A>GCA449882637ITPR3c.2073A>G (p.Glu691=)
c.2142A>G (p.Glu714=)
c.1890A>G (p.Glu630=)
6g.33669040A>TCA363697777ITPR3c.2073A>T (p.Glu691Asp)
c.2142A>T (p.Glu714Asp)
c.1890A>T (p.Glu630Asp)
6g.33669041G>ACA363697778ITPR3c.2074G>A (p.Val692Met)
c.2143G>A (p.Val715Met)
c.1891G>A (p.Val631Met)
dbSNP gnomAD v4
6g.33669041G>CCA363697779ITPR3c.2074G>C (p.Val692Leu)
c.2143G>C (p.Val715Leu)
c.1891G>C (p.Val631Leu)
6g.33669041G=CA1620116755ITPR3c.2074G= (p.Val692=)
c.2143G= (p.Val715=)
c.1891G= (p.Val631=)
6g.33669041G>TCA137130566ITPR3c.2074G>T (p.Val692Leu)
c.2143G>T (p.Val715Leu)
c.1891G>T (p.Val631Leu)
dbSNP
6g.33669042T>ACA363697784ITPR3c.2075T>A (p.Val692Glu)
c.2144T>A (p.Val715Glu)
c.1892T>A (p.Val631Glu)
6g.33669042T>CCA363697782ITPR3c.2075T>C (p.Val692Ala)
c.2144T>C (p.Val715Ala)
c.1892T>C (p.Val631Ala)
dbSNP
6g.33669042T>GCA363697786ITPR3c.2075T>G (p.Val692Gly)
c.2144T>G (p.Val715Gly)
c.1892T>G (p.Val631Gly)
6g.33669042T=CA1620116756ITPR3c.2075T= (p.Val692=)
c.2144T= (p.Val715=)
c.1892T= (p.Val631=)
6g.33669043G>ACA449882645ITPR3c.2076G>A (p.Val692=)
c.2145G>A (p.Val715=)
c.1893G>A (p.Val631=)
gnomAD v4
6g.33669043G>CCA449882647ITPR3c.2076G>C (p.Val692=)
c.2145G>C (p.Val715=)
c.1893G>C (p.Val631=)
6g.33669043G>TCA449882648ITPR3c.2076G>T (p.Val692=)
c.2145G>T (p.Val715=)
c.1893G>T (p.Val631=)
6g.33669044T>ACA363697787ITPR3c.2077T>A (p.Trp693Arg)
c.2146T>A (p.Trp716Arg)
c.1894T>A (p.Trp632Arg)
6g.33669044T>CCA363697790ITPR3c.2077T>C (p.Trp693Arg)
c.2146T>C (p.Trp716Arg)
c.1894T>C (p.Trp632Arg)
6g.33669044T>GCA363697792ITPR3c.2077T>G (p.Trp693Gly)
c.2146T>G (p.Trp716Gly)
c.1894T>G (p.Trp632Gly)
6g.33669045G>ACA363697795ITPR3c.2078G>A (p.Trp693Ter)
c.2147G>A (p.Trp716Ter)
c.1895G>A (p.Trp632Ter)
6g.33669045G>CCA363697796ITPR3c.2078G>C (p.Trp693Ser)
c.2147G>C (p.Trp716Ser)
c.1895G>C (p.Trp632Ser)
6g.33669045G>TCA363697798ITPR3c.2078G>T (p.Trp693Leu)
c.2147G>T (p.Trp716Leu)
c.1895G>T (p.Trp632Leu)
6g.33669046G>ACA363697800ITPR3c.2079G>A (p.Trp693Ter)
c.2148G>A (p.Trp716Ter)
c.1896G>A (p.Trp632Ter)
6g.33669046G>CCA363697802ITPR3c.2079G>C (p.Trp693Cys)
c.2148G>C (p.Trp716Cys)
c.1896G>C (p.Trp632Cys)
COSMIC COSMIC
6g.33669046G>TCA363697804ITPR3c.2079G>T (p.Trp693Cys)
c.2148G>T (p.Trp716Cys)
c.1896G>T (p.Trp632Cys)
6g.33669047C>ACA363697806ITPR3c.2080C>A (p.Leu694Ile)
c.2149C>A (p.Leu717Ile)
c.1897C>A (p.Leu633Ile)
6g.33669047C>GCA363697807ITPR3c.2080C>G (p.Leu694Val)
c.2149C>G (p.Leu717Val)
c.1897C>G (p.Leu633Val)
6g.33669047C>TCA363697809ITPR3c.2080C>T (p.Leu694Phe)
c.2149C>T (p.Leu717Phe)
c.1897C>T (p.Leu633Phe)
6g.33669048T>ACA363697812ITPR3c.2081T>A (p.Leu694His)
c.2150T>A (p.Leu717His)
c.1898T>A (p.Leu633His)
6g.33669048T>CCA363697815ITPR3c.2081T>C (p.Leu694Pro)
c.2150T>C (p.Leu717Pro)
c.1898T>C (p.Leu633Pro)
6g.33669048T>GCA363697814ITPR3c.2081T>G (p.Leu694Arg)
c.2150T>G (p.Leu717Arg)
c.1898T>G (p.Leu633Arg)
6g.33669049C>ACA449882665ITPR3c.2082C>A (p.Leu694=)
c.2151C>A (p.Leu717=)
c.1899C>A (p.Leu633=)
6g.33669049C>GCA449882666ITPR3c.2082C>G (p.Leu694=)
c.2151C>G (p.Leu717=)
c.1899C>G (p.Leu633=)
6g.33669049C>TCA449882667ITPR3c.2082C>T (p.Leu694=)
c.2151C>T (p.Leu717=)
c.1899C>T (p.Leu633=)
6g.33669050A>CCA363697818ITPR3c.2083A>C (p.Thr695Pro)
c.2152A>C (p.Thr718Pro)
c.1900A>C (p.Thr634Pro)
gnomAD v4
6g.33669050A>GCA363697820ITPR3c.2083A>G (p.Thr695Ala)
c.2152A>G (p.Thr718Ala)
c.1900A>G (p.Thr634Ala)
6g.33669050A>TCA363697822ITPR3c.2083A>T (p.Thr695Ser)
c.2152A>T (p.Thr718Ser)
c.1900A>T (p.Thr634Ser)
6g.33669051C>ACA363697824ITPR3c.2084C>A (p.Thr695Lys)
c.2153C>A (p.Thr718Lys)
c.1901C>A (p.Thr634Lys)
6g.33669051C=CA1620116757ITPR3c.2084C= (p.Thr695=)
c.2153C= (p.Thr718=)
c.1901C= (p.Thr634=)
6g.33669051C>GCA363697826ITPR3c.2084C>G (p.Thr695Arg)
c.2153C>G (p.Thr718Arg)
c.1901C>G (p.Thr634Arg)
6g.33669051C>TCA3760468ITPR3c.2084C>T (p.Thr695Met)
c.2153C>T (p.Thr718Met)
c.1901C>T (p.Thr634Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33669052G>ACA3760469ITPR3c.2085G>A (p.Thr695=)
c.2154G>A (p.Thr718=)
c.1902G>A (p.Thr634=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33669052G>CCA449882677ITPR3c.2085G>C (p.Thr695=)
c.2154G>C (p.Thr718=)
c.1902G>C (p.Thr634=)
6g.33669052G=CA1620116758ITPR3c.2085G= (p.Thr695=)
c.2154G= (p.Thr718=)
c.1902G= (p.Thr634=)
6g.33669052G>TCA449882674ITPR3c.2085G>T (p.Thr695=)
c.2154G>T (p.Thr718=)
c.1902G>T (p.Thr634=)
COSMIC COSMIC
6g.33669053T>ACA363697831ITPR3c.2086T>A (p.Trp696Arg)
c.2155T>A (p.Trp719Arg)
c.1903T>A (p.Trp635Arg)
6g.33669053T>CCA363697832ITPR3c.2086T>C (p.Trp696Arg)
c.2155T>C (p.Trp719Arg)
c.1903T>C (p.Trp635Arg)
6g.33669053T>GCA363697834ITPR3c.2086T>G (p.Trp696Gly)
c.2155T>G (p.Trp719Gly)
c.1903T>G (p.Trp635Gly)
6g.33669054G>ACA363697839ITPR3c.2087G>A (p.Trp696Ter)
c.2156G>A (p.Trp719Ter)
c.1904G>A (p.Trp635Ter)
6g.33669054G>CCA363697841ITPR3c.2087G>C (p.Trp696Ser)
c.2156G>C (p.Trp719Ser)
c.1904G>C (p.Trp635Ser)
6g.33669054G>TCA363697837ITPR3c.2087G>T (p.Trp696Leu)
c.2156G>T (p.Trp719Leu)
c.1904G>T (p.Trp635Leu)
6g.33669055G>ACA3760470ITPR3c.2088G>A (p.Trp696Ter)
c.2157G>A (p.Trp719Ter)
c.1905G>A (p.Trp635Ter)
dbSNP ExAC gnomAD v2
6g.33669055G>CCA363697844ITPR3c.2088G>C (p.Trp696Cys)
c.2157G>C (p.Trp719Cys)
c.1905G>C (p.Trp635Cys)
dbSNP gnomAD v3 gnomAD v4
6g.33669055G=CA1620116759ITPR3c.2088G= (p.Trp696=)
c.2157G= (p.Trp719=)
c.1905G= (p.Trp635=)
6g.33669055G>TCA363697846ITPR3c.2088G>T (p.Trp696Cys)
c.2157G>T (p.Trp719Cys)
c.1905G>T (p.Trp635Cys)
6g.33669056A>CCA363697848ITPR3c.2089A>C (p.Thr697Pro)
c.2158A>C (p.Thr720Pro)
c.1906A>C (p.Thr636Pro)
6g.33669056A>GCA363697851ITPR3c.2089A>G (p.Thr697Ala)
c.2158A>G (p.Thr720Ala)
c.1906A>G (p.Thr636Ala)
6g.33669056A>TCA363697853ITPR3c.2089A>T (p.Thr697Ser)
c.2158A>T (p.Thr720Ser)
c.1906A>T (p.Thr636Ser)
6g.33669057C>ACA363697856ITPR3c.2090C>A (p.Thr697Asn)
c.2159C>A (p.Thr720Asn)
c.1907C>A (p.Thr636Asn)
6g.33669057C>GCA363697857ITPR3c.2090C>G (p.Thr697Ser)
c.2159C>G (p.Thr720Ser)
c.1907C>G (p.Thr636Ser)
6g.33669057C>TCA363697859ITPR3c.2090C>T (p.Thr697Ile)
c.2159C>T (p.Thr720Ile)
c.1907C>T (p.Thr636Ile)
6g.33669058T>ACA449882695ITPR3c.2091T>A (p.Thr697=)
c.2160T>A (p.Thr720=)
c.1908T>A (p.Thr636=)
6g.33669058T>CCA449882697ITPR3c.2091T>C (p.Thr697=)
c.2160T>C (p.Thr720=)
c.1908T>C (p.Thr636=)
6g.33669058T>GCA449882699ITPR3c.2091T>G (p.Thr697=)
c.2160T>G (p.Thr720=)
c.1908T>G (p.Thr636=)
gnomAD v4
6g.33669059G>ACA363697861ITPR3c.2092G>A (p.Asp698Asn)
c.2161G>A (p.Asp721Asn)
c.1909G>A (p.Asp637Asn)
6g.33669059G>CCA363697863ITPR3c.2092G>C (p.Asp698His)
c.2161G>C (p.Asp721His)
c.1909G>C (p.Asp637His)
6g.33669059G>TCA363697864ITPR3c.2092G>T (p.Asp698Tyr)
c.2161G>T (p.Asp721Tyr)
c.1909G>T (p.Asp637Tyr)
6g.33669060A>CCA363697870ITPR3c.2093A>C (p.Asp698Ala)
c.2162A>C (p.Asp721Ala)
c.1910A>C (p.Asp637Ala)
6g.33669060A>GCA363697866ITPR3c.2093A>G (p.Asp698Gly)
c.2162A>G (p.Asp721Gly)
c.1910A>G (p.Asp637Gly)
6g.33669060A>TCA363697868ITPR3c.2093A>T (p.Asp698Val)
c.2162A>T (p.Asp721Val)
c.1910A>T (p.Asp637Val)
6g.33669061C>ACA363697872ITPR3c.2094C>A (p.Asp698Glu)
c.2163C>A (p.Asp721Glu)
c.1911C>A (p.Asp637Glu)
6g.33669061C>GCA363697874ITPR3c.2094C>G (p.Asp698Glu)
c.2163C>G (p.Asp721Glu)
c.1911C>G (p.Asp637Glu)
6g.33669061C>TCA449882706ITPR3c.2094C>T (p.Asp698=)
c.2163C>T (p.Asp721=)
c.1911C>T (p.Asp637=)
6g.33669062A>CCA363697876ITPR3c.2095A>C (p.Lys699Gln)
c.2164A>C (p.Lys722Gln)
c.1912A>C (p.Lys638Gln)
6g.33669062A>GCA363697878ITPR3c.2095A>G (p.Lys699Glu)
c.2164A>G (p.Lys722Glu)
c.1912A>G (p.Lys638Glu)
gnomAD v4
6g.33669062A>TCA363697880ITPR3c.2095A>T (p.Lys699Ter)
c.2164A>T (p.Lys722Ter)
c.1912A>T (p.Lys638Ter)
6g.33669063A=CA1620116760ITPR3c.2096A= (p.Lys699=)
c.2165A= (p.Lys722=)
c.1913A= (p.Lys638=)
6g.33669063A>CCA363697882ITPR3c.2096A>C (p.Lys699Thr)
c.2165A>C (p.Lys722Thr)
c.1913A>C (p.Lys638Thr)
6g.33669063A>GCA363697884ITPR3c.2096A>G (p.Lys699Arg)
c.2165A>G (p.Lys722Arg)
c.1913A>G (p.Lys638Arg)
dbSNP gnomAD v2 gnomAD v4
6g.33669063A>TCA363697886ITPR3c.2096A>T (p.Lys699Met)
c.2165A>T (p.Lys722Met)
c.1913A>T (p.Lys638Met)
6g.33669064G>ACA449882713ITPR3c.2097G>A (p.Lys699=)
c.2166G>A (p.Lys722=)
c.1914G>A (p.Lys638=)
6g.33669064G>CCA363697887ITPR3c.2097G>C (p.Lys699Asn)
c.2166G>C (p.Lys722Asn)
c.1914G>C (p.Lys638Asn)
gnomAD v4
6g.33669064G>TCA363697889ITPR3c.2097G>T (p.Lys699Asn)
c.2166G>T (p.Lys722Asn)
c.1914G>T (p.Lys638Asn)
6g.33669064_33669065delinsGACA1620116761ITPR3c.2097_2098delinsGA (p.Lys699=)
c.2166_2167delinsGA (p.Lys722=)
c.1914_1915delinsGA (p.Lys638=)
6g.33669065A>CCA363697891ITPR3c.2098A>C (p.Asn700His)
c.2167A>C (p.Asn723His)
c.1915A>C (p.Asn639His)
6g.33669065A>GCA363697892ITPR3c.2098A>G (p.Asn700Asp)
c.2167A>G (p.Asn723Asp)
c.1915A>G (p.Asn639Asp)
gnomAD v4
6g.33669065A>TCA363697893ITPR3c.2098A>T (p.Asn700Tyr)
c.2167A>T (p.Asn723Tyr)
c.1915A>T (p.Asn639Tyr)
6g.33669066delCA917720223ITPR3c.2099del (p.Asn700IlefsTer9)
c.2168del (p.Asn723IlefsTer9)
c.1916del (p.Asn639IlefsTer9)
dbSNP gnomAD v4
6g.33669066A>CCA363697897ITPR3c.2099A>C (p.Asn700Thr)
c.2168A>C (p.Asn723Thr)
c.1916A>C (p.Asn639Thr)
6g.33669066A>GCA363697899ITPR3c.2099A>G (p.Asn700Ser)
c.2168A>G (p.Asn723Ser)
c.1916A>G (p.Asn639Ser)
gnomAD v4
6g.33669066A>TCA363697895ITPR3c.2099A>T (p.Asn700Ile)
c.2168A>T (p.Asn723Ile)
c.1916A>T (p.Asn639Ile)
6g.33669067T>ACA363697901ITPR3c.2100T>A (p.Asn700Lys)
c.2169T>A (p.Asn723Lys)
c.1917T>A (p.Asn639Lys)
6g.33669067T>CCA449882722ITPR3c.2100T>C (p.Asn700=)
c.2169T>C (p.Asn723=)
c.1917T>C (p.Asn639=)
6g.33669067T>GCA363697903ITPR3c.2100T>G (p.Asn700Lys)
c.2169T>G (p.Asn723Lys)
c.1917T>G (p.Asn639Lys)
6g.33669068A>CCA363697904ITPR3c.2101A>C (p.Asn701His)
c.2170A>C (p.Asn724His)
c.1918A>C (p.Asn640His)
6g.33669068A>GCA363697906ITPR3c.2101A>G (p.Asn701Asp)
c.2170A>G (p.Asn724Asp)
c.1918A>G (p.Asn640Asp)
6g.33669068A>TCA363697909ITPR3c.2101A>T (p.Asn701Tyr)
c.2170A>T (p.Asn724Tyr)
c.1918A>T (p.Asn640Tyr)
6g.33669069A>CCA363697915ITPR3c.2102A>C (p.Asn701Thr)
c.2171A>C (p.Asn724Thr)
c.1919A>C (p.Asn640Thr)
6g.33669069A>GCA363697914ITPR3c.2102A>G (p.Asn701Ser)
c.2171A>G (p.Asn724Ser)
c.1919A>G (p.Asn640Ser)
6g.33669069A>TCA363697912ITPR3c.2102A>T (p.Asn701Ile)
c.2171A>T (p.Asn724Ile)
c.1919A>T (p.Asn640Ile)
6g.33669070C>ACA363697916ITPR3c.2103C>A (p.Asn701Lys)
c.2172C>A (p.Asn724Lys)
c.1920C>A (p.Asn640Lys)
6g.33669070C=CA1620116762ITPR3c.2103C= (p.Asn701=)
c.2172C= (p.Asn724=)
c.1920C= (p.Asn640=)
6g.33669070C>GCA363697918ITPR3c.2103C>G (p.Asn701Lys)
c.2172C>G (p.Asn724Lys)
c.1920C>G (p.Asn640Lys)
dbSNP gnomAD v2 gnomAD v4
6g.33669070C>TCA3760471ITPR3c.2103C>T (p.Asn701=)
c.2172C>T (p.Asn724=)
c.1920C>T (p.Asn640=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33669071G>ACA3760472ITPR3c.2104G>A (p.Glu702Lys)
c.2173G>A (p.Glu725Lys)
c.1921G>A (p.Glu641Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33669071G>CCA363697921ITPR3c.2104G>C (p.Glu702Gln)
c.2173G>C (p.Glu725Gln)
c.1921G>C (p.Glu641Gln)
6g.33669071G=CA1620116763ITPR3c.2104G= (p.Glu702=)
c.2173G= (p.Glu725=)
c.1921G= (p.Glu641=)
6g.33669071G>TCA363697923ITPR3c.2104G>T (p.Glu702Ter)
c.2173G>T (p.Glu725Ter)
c.1921G>T (p.Glu641Ter)
6g.33669072A>CCA363697929ITPR3c.2105A>C (p.Glu702Ala)
c.2174A>C (p.Glu725Ala)
c.1922A>C (p.Glu641Ala)
6g.33669072A>GCA363697925ITPR3c.2105A>G (p.Glu702Gly)
c.2174A>G (p.Glu725Gly)
c.1922A>G (p.Glu641Gly)
6g.33669072A>TCA363697927ITPR3c.2105A>T (p.Glu702Val)
c.2174A>T (p.Glu725Val)
c.1922A>T (p.Glu641Val)
6g.33669073G>ACA449882987ITPR3c.2106G>A (p.Glu702=)
c.2175G>A (p.Glu725=)
c.1923G>A (p.Glu641=)
6g.33669073G>CCA363697932ITPR3c.2106G>C (p.Glu702Asp)
c.2175G>C (p.Glu725Asp)
c.1923G>C (p.Glu641Asp)
6g.33669073G>TCA363697934ITPR3c.2106G>T (p.Glu702Asp)
c.2175G>T (p.Glu725Asp)
c.1923G>T (p.Glu641Asp)
6g.33669074C>ACA363697936ITPR3c.2107C>A (p.His703Asn)
c.2176C>A (p.His726Asn)
c.1924C>A (p.His642Asn)
6g.33669074C>GCA363697937ITPR3c.2107C>G (p.His703Asp)
c.2176C>G (p.His726Asp)
c.1924C>G (p.His642Asp)
6g.33669074C>TCA363697939ITPR3c.2107C>T (p.His703Tyr)
c.2176C>T (p.His726Tyr)
c.1924C>T (p.His642Tyr)
6g.33669075A>CCA363697940ITPR3c.2108A>C (p.His703Pro)
c.2177A>C (p.His726Pro)
c.1925A>C (p.His642Pro)
6g.33669075A>GCA363697941ITPR3c.2108A>G (p.His703Arg)
c.2177A>G (p.His726Arg)
c.1925A>G (p.His642Arg)
6g.33669075A>TCA363697942ITPR3c.2108A>T (p.His703Leu)
c.2177A>T (p.His726Leu)
c.1925A>T (p.His642Leu)

Number of alleles fetched