Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33668947C>ACA2578586531ITPR3c.2007-27C>A (n.2007-27C>A)
c.2076-27C>A (n.2076-27C>A)
c.1824-27C>A (n.1824-27C>A)
6g.33668947_33668948delCA2678292805ITPR3c.2007-27_2007-26del (n.2007-27_2007-26del)
c.2076-27_2076-26del (n.2076-27_2076-26del)
c.1824-27_1824-26del (n.1824-27_1824-26del)
gnomAD v4
6g.33668948T>ACA2678292806ITPR3c.2007-26T>A (n.2007-26T>A)
c.2076-26T>A (n.2076-26T>A)
c.1824-26T>A (n.1824-26T>A)
gnomAD v4
6g.33668950_33668951delCA2678292807ITPR3c.2007-24_2007-23del (n.2007-24_2007-23del)
c.2076-24_2076-23del (n.2076-24_2076-23del)
c.1824-24_1824-23del (n.1824-24_1824-23del)
gnomAD v4
6g.33668949G>ACA2578586532ITPR3c.2007-25G>A (n.2007-25G>A)
c.2076-25G>A (n.2076-25G>A)
c.1824-25G>A (n.1824-25G>A)
6g.33668950T>ACA2578586533ITPR3c.2007-24T>A (n.2007-24T>A)
c.2076-24T>A (n.2076-24T>A)
c.1824-24T>A (n.1824-24T>A)
6g.33668951G>ACA2678292808ITPR3c.2007-23G>A (n.2007-23G>A)
c.2076-23G>A (n.2076-23G>A)
c.1824-23G>A (n.1824-23G>A)
gnomAD v4
6g.33668951G>TCA2508576510ITPR3c.2007-23G>T (n.2007-23G>T)
c.2076-23G>T (n.2076-23G>T)
c.1824-23G>T (n.1824-23G>T)
6g.33668952A>GCA2578586534ITPR3c.2007-22A>G (n.2007-22A>G)
c.2076-22A>G (n.2076-22A>G)
c.1824-22A>G (n.1824-22A>G)
6g.33668953C=CA1620116727ITPR3c.2007-21C= (n.2007-21C=)
c.2076-21C= (n.2076-21C=)
c.1824-21C= (n.1824-21C=)
6g.33668953C>GCA137130461ITPR3c.2007-21C>G (n.2007-21C>G)
c.2076-21C>G (n.2076-21C>G)
c.1824-21C>G (n.1824-21C>G)
dbSNP gnomAD v2 gnomAD v4
6g.33668956G>ACA2578586535ITPR3c.2007-18G>A (n.2007-18G>A)
c.2076-18G>A (n.2076-18G>A)
c.1824-18G>A (n.1824-18G>A)
6g.33668956G=CA1620116728ITPR3c.2007-18G= (n.2007-18G=)
c.2076-18G= (n.2076-18G=)
c.1824-18G= (n.1824-18G=)
6g.33668956G>TCA566701360ITPR3c.2007-18G>T (n.2007-18G>T)
c.2076-18G>T (n.2076-18G>T)
c.1824-18G>T (n.1824-18G>T)
dbSNP gnomAD v2 gnomAD v4
6g.33668960C=CA1620116729ITPR3c.2007-14C= (n.2007-14C=)
c.2076-14C= (n.2076-14C=)
c.1824-14C= (n.1824-14C=)
6g.33668960C>GCA566701361ITPR3c.2007-14C>G (n.2007-14C>G)
c.2076-14C>G (n.2076-14C>G)
c.1824-14C>G (n.1824-14C>G)
dbSNP gnomAD v2 gnomAD v4
6g.33668960C>TCA3760452ITPR3c.2007-14C>T (n.2007-14C>T)
c.2076-14C>T (n.2076-14C>T)
c.1824-14C>T (n.1824-14C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33668962G>CCA3760453ITPR3c.2007-12G>C (n.2007-12G>C)
c.2076-12G>C (n.2076-12G>C)
c.1824-12G>C (n.1824-12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33668962G=CA1620116730ITPR3c.2007-12G= (n.2007-12G=)
c.2076-12G= (n.2076-12G=)
c.1824-12G= (n.1824-12G=)
6g.33668962G>TCA2678292815ITPR3c.2007-12G>T (n.2007-12G>T)
c.2076-12G>T (n.2076-12G>T)
c.1824-12G>T (n.1824-12G>T)
gnomAD v4
6g.33668963G>ACA566701362ITPR3c.2007-11G>A (n.2007-11G>A)
c.2076-11G>A (n.2076-11G>A)
c.1824-11G>A (n.1824-11G>A)
dbSNP gnomAD v2
6g.33668963G=CA1620116731ITPR3c.2007-11G= (n.2007-11G=)
c.2076-11G= (n.2076-11G=)
c.1824-11G= (n.1824-11G=)
6g.33668968C>ACA2678292816ITPR3c.2007-6C>A (n.2007-6C>A)
c.2076-6C>A (n.2076-6C>A)
c.1824-6C>A (n.1824-6C>A)
gnomAD v4
6g.33668969T>CCA2678292817ITPR3c.2007-5T>C (n.2007-5T>C)
c.2076-5T>C (n.2076-5T>C)
c.1824-5T>C (n.1824-5T>C)
gnomAD v4
6g.33668970G>ACA2678292818ITPR3c.2007-4G>A (n.2007-4G>A)
c.2076-4G>A (n.2076-4G>A)
c.1824-4G>A (n.1824-4G>A)
gnomAD v4
6g.33668972A>CCA363697484ITPR3c.2007-2A>C (n.2007-2A>C)
c.2076-2A>C (n.2076-2A>C)
c.1824-2A>C (n.1824-2A>C)
6g.33668972A>GCA363697486ITPR3c.2007-2A>G (n.2007-2A>G)
c.2076-2A>G (n.2076-2A>G)
c.1824-2A>G (n.1824-2A>G)
6g.33668972A>TCA363697487ITPR3c.2007-2A>T (n.2007-2A>T)
c.2076-2A>T (n.2076-2A>T)
c.1824-2A>T (n.1824-2A>T)
6g.33668973G>ACA363697489ITPR3c.2007-1G>A (n.2007-1G>A)
c.2076-1G>A (n.2076-1G>A)
c.1824-1G>A (n.1824-1G>A)
6g.33668973G>CCA363697490ITPR3c.2007-1G>C (n.2007-1G>C)
c.2076-1G>C (n.2076-1G>C)
c.1824-1G>C (n.1824-1G>C)
6g.33668973G>TCA363697492ITPR3c.2007-1G>T (n.2007-1G>T)
c.2076-1G>T (n.2076-1G>T)
c.1824-1G>T (n.1824-1G>T)
6g.33668974G>ACA449882449ITPR3c.2007G>A (p.Glu669=)
c.2076G>A (p.Glu692=)
c.1824G>A (p.Glu608=)
gnomAD v4
6g.33668974G>CCA3760454ITPR3c.2007G>C (p.Glu669Asp)
c.2076G>C (p.Glu692Asp)
c.1824G>C (p.Glu608Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33668974G=CA1620116732ITPR3c.2007G= (p.Glu669=)
c.2076G= (p.Glu692=)
c.1824G= (p.Glu608=)
6g.33668974G>TCA363697495ITPR3c.2007G>T (p.Glu669Asp)
c.2076G>T (p.Glu692Asp)
c.1824G>T (p.Glu608Asp)
dbSNP gnomAD v3 gnomAD v4
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)

Number of alleles fetched